Variant report

Variant	esv3371265
Chromosome Location	chr11:65339201-65341749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:65339557-65339757	K562	blood:	n/a	n/a
2	ATF1	chr11:65341662-65342057	K562	blood:	n/a	n/a
3	ATF2	chr11:65341566-65342007	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:65341599-65342434	GM12878	blood:	n/a	n/a
5	ATF3	chr11:65341722-65342148	A549	lung:	n/a	chr11:65341801-65341810 chr11:65341769-65341778 chr11:65341764-65341773 chr11:65342002-65342011
6	BATF	chr11:65341696-65342083	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:65341644-65342100	GM12878	blood:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65341761-65341774 chr11:65341763-65341772
8	BCL3	chr11:65341640-65343462	A549	lung:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65342167-65342176 chr11:65341761-65341774 chr11:65341763-65341772
9	BCL3	chr11:65341411-65343478	A549	lung:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65342167-65342176 chr11:65341761-65341774 chr11:65341763-65341772
10	BCL3	chr11:65341600-65342420	GM12878	blood:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65342167-65342176 chr11:65341761-65341774 chr11:65341763-65341772
11	BCLAF1	chr11:65341578-65342347	GM12878	blood:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65342167-65342176 chr11:65341761-65341774 chr11:65341763-65341772
12	BCLAF1	chr11:65339781-65340315	GM12878	blood:	n/a	chr11:65339854-65339863
13	BCLAF1	chr11:65341453-65343390	GM12878	blood:	n/a	chr11:65341840-65341853 chr11:65341929-65341938 chr11:65342167-65342176 chr11:65341761-65341774 chr11:65341763-65341772
14	BHLHE40	chr11:65341614-65342104	K562	blood:	n/a	n/a
15	BHLHE40	chr11:65341612-65342541	GM12878	blood:	n/a	chr11:65342496-65342512
16	BHLHE40	chr11:65339532-65339637	K562	blood:	n/a	n/a
17	BRCA1	chr11:65341586-65341940	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr11:65339246-65340055	K562	blood:	n/a	n/a
19	CBX3	chr11:65341560-65342061	K562	blood:	n/a	n/a
20	CCNT2	chr11:65339871-65340490	K562	blood:	n/a	chr11:65339973-65339982
21	CCNT2	chr11:65341581-65342234	K562	blood:	n/a	chr11:65341807-65341816 chr11:65341755-65341764
22	CEBPB	chr11:65341748-65341758	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:65341640-65342176	GM12878	blood:	n/a	n/a
24	CEBPD	chr11:65341599-65342221	K562	blood:	n/a	n/a
25	CHD1	chr11:65339226-65340987	IMR90	lung:	n/a	n/a
26	CHD2	chr11:65341644-65341926	H1-hESC	embryonic stem cell:	n/a	chr11:65341767-65341777 chr11:65341755-65341765
27	CHD2	chr11:65341631-65342647	GM12878	blood:	n/a	chr11:65341767-65341777 chr11:65341755-65341765
28	CHD2	chr11:65341592-65342123	Hela-S3	cervix:	n/a	chr11:65341767-65341777 chr11:65341755-65341765
29	CHD2	chr11:65339496-65340295	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr11:65339870-65340082	K562	blood:	n/a	n/a
31	CHD2	chr11:65341746-65341989	K562	blood:	n/a	chr11:65341767-65341777 chr11:65341755-65341765
32	CHD2	chr11:65339587-65340144	GM12878	blood:	n/a	n/a
33	CREB1	chr11:65339751-65340494	A549	lung:	n/a	n/a
34	CREB1	chr11:65341522-65342831	HepG2	liver:	n/a	n/a
35	CREB1	chr11:65341501-65342308	GM12878	blood:	n/a	n/a
36	CREB1	chr11:65341506-65342214	K562	blood:	n/a	n/a
37	CREB1	chr11:65341350-65342167	A549	lung:	n/a	n/a
38	CTCF	chr11:65339490-65339628	ProgFib	skin:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
39	CTCF	chr11:65339440-65339590	GM12869	blood:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
40	CTCF	chr11:65339420-65339570	HEEpiC	esophagus:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
41	CTCF	chr11:65341660-65341810	MCF-7	breast:	n/a	chr11:65341731-65341744 chr11:65341734-65341742 chr11:65341734-65341747 chr11:65341733-65341754 chr11:65341734-65341747 chr11:65341731-65341749 chr11:65341732-65341748
42	CTCF	chr11:65341583-65341933	NHEK	skin:	n/a	chr11:65341731-65341744 chr11:65341734-65341742 chr11:65341734-65341747 chr11:65341733-65341754 chr11:65341734-65341747 chr11:65341731-65341749 chr11:65341732-65341748
43	CTCF	chr11:65339487-65339589	GM13976	blood:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
44	CTCF	chr11:65339173-65340168	SK-N-SH	brain:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
45	CTCF	chr11:65341601-65341886	Medullo	brain:	n/a	chr11:65341731-65341744 chr11:65341734-65341742 chr11:65341734-65341747 chr11:65341733-65341754 chr11:65341734-65341747 chr11:65341731-65341749 chr11:65341732-65341748
46	CTCF	chr11:65341640-65341790	GM12874	blood:	n/a	chr11:65341731-65341744 chr11:65341734-65341742 chr11:65341734-65341747 chr11:65341733-65341754 chr11:65341734-65341747 chr11:65341731-65341749 chr11:65341732-65341748
47	CTCF	chr11:65339460-65339610	Caco-2	colon:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
48	CTCF	chr11:65339460-65339610	BJ	skin:	n/a	chr11:65339530-65339540 chr11:65339527-65339545 chr11:65339528-65339544 chr11:65339522-65339543
49	CTCF	chr11:65341640-65341790	HEK293	kidney:	n/a	chr11:65341731-65341744 chr11:65341734-65341742 chr11:65341734-65341747 chr11:65341733-65341754 chr11:65341734-65341747 chr11:65341731-65341749 chr11:65341732-65341748
50	CTCF	chr11:65339360-65339510	BE2_C	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65340843-65340893	AG09309	skin:	n/a
2	chr11:65340282-65340332	Caco-2	colon:	n/a
3	chr11:65340282-65340332	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:65340843-65340893	HCM	heart:	n/a
5	chr11:65340843-65340893	Caco-2	colon:	n/a
6	chr11:65339797-65339847	SK-N-SH_RA	brain:	n/a
7	chr11:65339691-65339741	NHDF-neo	bronchial:	n/a
8	chr11:65340056-65340106	MCF10A-Er-Src	breast:	n/a
9	chr11:65340482-65340532	HUVEC	blood vessel:	n/a
10	chr11:65341001-65341051	HepG2	liver:	n/a
11	chr11:65340282-65340332	RPTEC	kidney:	n/a
12	chr11:65339774-65339824	AG04450	lung:	fetal
13	chr11:65340482-65340532	HAEpiC	amniotic membrane:	n/a
14	chr11:65339774-65339824	MCF-7	breast:	n/a
15	chr11:65339774-65339824	GM19239	blood:	n/a
16	chr11:65339703-65339753	CMK	blood:	n/a
17	chr11:65340056-65340106	HCT-116	colon:	n/a
18	chr11:65341556-65341606	IMR90	lung:	fetal
19	chr11:65340282-65340332	K562	blood:	n/a
20	chr11:65339774-65339824	T-47D	breast:	n/a
21	chr11:65340282-65340332	Jurkat	blood:	n/a
22	chr11:65341001-65341051	NHBE	bronchial:	n/a
23	chr11:65339779-65339829	GM12892	blood:	n/a
24	chr11:65340482-65340532	NB4	blood:	n/a
25	chr11:65339691-65339741	HIPEpiC	eye:	n/a
26	chr11:65339797-65339847	BE2_C	brain:	n/a
27	chr11:65340482-65340532	HRPEpiC	eye:	n/a
28	chr11:65340056-65340106	IMR90	lung:	fetal
29	chr11:65339691-65339741	NHBE	bronchial:	n/a
30	chr11:65340482-65340532	HEEpiC	esophagus:	n/a
31	chr11:65339797-65339847	NHBE	bronchial:	n/a
32	chr11:65340282-65340332	BJ	skin:	n/a
33	chr11:65341556-65341606	BJ	skin:	n/a
34	chr11:65341001-65341051	GM19239	blood:	n/a
35	chr11:65340056-65340106	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:65340056-65340106	Jurkat	blood:	n/a
37	chr11:65341001-65341051	U87	brain:	n/a
38	chr11:65340843-65340893	NHDF-neo	bronchial:	n/a
39	chr11:65341556-65341606	HRE	kidney:	n/a
40	chr11:65340056-65340106	K562	blood:	n/a
41	chr11:65340482-65340532	HCF	heart:	n/a
42	chr11:65341001-65341051	GM12878	blood:	n/a
43	chr11:65341661-65341711	AG09319	gingival:	n/a
44	chr11:65341556-65341606	AG09309	skin:	n/a
45	chr11:65339779-65339829	MCF-7	breast:	n/a
46	chr11:65340282-65340332	SKMC	muscle:	n/a
47	chr11:65340843-65340893	AG04449	skin:	fetal
48	chr11:65339797-65339847	HCM	heart:	n/a
49	chr11:65339703-65339753	SK-N-SH_RA	brain:	n/a
50	chr11:65339691-65339741	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65339784..65341937-chr11:65625772..65627928,2	MCF-7	breast:
2	chr11:65340278..65343049-chr11:65386590..65388396,2	K562	blood:
3	chr11:65339484..65343401-chr11:65428921..65432383,5	MCF-7	breast:
4	chr11:65340565..65342464-chr11:65429747..65431781,2	K562	blood:
5	chr11:65263724..65269268-chr11:65338505..65344270,10	K562	blood:
6	chr11:65182317..65198249-chr11:65333937..65346467,45	MCF-7	breast:
7	chr11:65307718..65309356-chr11:65341045..65342310,5	MCF-7	breast:
8	chr11:65341552..65342216-chr2:149457549..149458549,2	MCF-7	breast:
9	chr11:65307312..65308926-chr11:65339023..65340083,15	MCF-7	breast:
10	chr11:65341347..65342239-chr11:65417554..65418508,2	MCF-7	breast:
11	chr11:65292128..65292963-chr11:65339637..65340319,2	MCF-7	breast:
12	chr11:65341602..65342335-chr11:65361102..65361797,4	MCF-7	breast:
13	chr11:65340005..65341826-chr11:65429099..65431021,2	MCF-7	breast:
14	chr11:64880625..64882228-chr11:65341727..65343311,2	MCF-7	breast:
15	chr11:65307733..65308892-chr11:65339050..65340029,8	K562	blood:
16	chr11:65242924..65245419-chr11:65340092..65341743,2	K562	blood:
17	chr11:65340642..65343423-chr11:65617979..65623594,4	K562	blood:
18	chr11:65160499..65162253-chr11:65337171..65339326,2	K562	blood:
19	chr11:65341415..65343423-chr11:65622094..65625636,3	K562	blood:
20	chr11:65105589..65107850-chr11:65341352..65343496,2	K562	blood:
21	chr11:65339613..65340413-chr13:76111532..76112034,2	NB4	blood:
22	chr11:65153863..65156638-chr11:65338515..65340857,2	MCF-7	breast:
23	chr11:65263786..65274103-chr11:65335962..65346813,28	MCF-7	breast:
24	chr11:65341380..65343609-chr11:65408104..65410405,2	MCF-7	breast:
25	chr11:65341332..65342152-chr11:65585406..65586216,3	K562	blood:
26	chr11:65341604..65343487-chr11:65676828..65679293,2	MCF-7	breast:
27	chr11:65336061..65346997-chr11:65371025..65390625,42	MCF-7	breast:
28	chr11:65335401..65344755-chr11:65379602..65385163,20	K562	blood:
29	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
30	chr11:65336222..65339291-chr11:65623626..65626992,4	K562	blood:
31	chr11:65184392..65191686-chr11:65339528..65345365,10	K562	blood:
32	chr11:65185945..65193560-chr11:65336627..65344485,19	K562	blood:
33	chr1:43888036..43888922-chr11:65339030..65339732,2	MCF-7	breast:
34	chr11:65341635..65342180-chr11:65585753..65586268,2	MCF-7	breast:
35	chr11:65222762..65225438-chr11:65341182..65342717,2	K562	blood:
36	chr11:65307753..65309694-chr11:65341110..65342293,5	K562	blood:
37	chr11:65341328..65342159-chr11:65355898..65356808,3	K562	blood:
38	chr11:65339875..65342450-chr11:65666434..65669137,3	K562	blood:
39	chr11:65307690..65308243-chr11:65339096..65339797,3	MCF-7	breast:
40	chr11:65188021..65191759-chr11:65338955..65343877,5	MCF-7	breast:
41	chr11:65138857..65141367-chr11:65340258..65342682,2	MCF-7	breast:
42	chr11:65246176..65247913-chr11:65340313..65342776,2	K562	blood:
43	chr11:65341043..65343475-chr11:65375673..65377829,2	K562	blood:
44	chr11:65308368..65309266-chr11:65341339..65341960,2	MCF-7	breast:
45	chr11:65341009..65346216-chr11:65370852..65374605,4	K562	blood:
46	chr11:65341659..65342339-chr11:65360596..65361650,4	K562	blood:
47	chr11:65341255..65342460-chr11:65355882..65356862,6	MCF-7	breast:
48	chr11:65029169..65030974-chr11:65340092..65341693,2	MCF-7	breast:
49	chr11:65262109..65269742-chr11:65336183..65344125,16	MCF-7	breast:
50	chr11:65109918..65112567-chr11:65337864..65339971,2	K562	blood:

Variant related genes	Relation type
EHBP1L1	TF binding region
SSSCA1-AS1	TF binding region
FAM89B	TF binding region
EHBP1L1	CpG island
SSSCA1-AS1	CpG island
FAM89B	CpG island
ENSG00000188243	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000198198	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000173338	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000126391	chromatin interactions
ENSG00000213445	chromatin interactions
ENSG00000142186	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000014138	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000133884	chromatin interactions
ENSG00000149792	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563165269	chr11:65339203-65339204	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs75303597	chr11:65339207-65339208	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs545342723	chr11:65339242-65339243	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs112923326	chr11:65339246-65339247	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs116284034	chr11:65339300-65339301	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs367851900	chr11:65339303-65339304	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs1194104	chr11:65339346-65339347	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs1194105	chr11:65339369-65339370	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs11227227	chr11:65339378-65339379	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs571905274	chr11:65339382-65339383	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs561043703	chr11:65339385-65339386	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs190670638	chr11:65339436-65339437	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs549729884	chr11:65339466-65339467	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs78700160	chr11:65339486-65339487	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs568725344	chr11:65339498-65339499	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs532314640	chr11:65339617-65339618	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs78049298	chr11:65339635-65339636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs541680465	chr11:65339710-65339711	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs73490434	chr11:65339726-65339727	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs554276272	chr11:65339778-65339779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs567827958	chr11:65339798-65339799	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs536829471	chr11:65339879-65339880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs181226303	chr11:65339890-65339891	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs576638846	chr11:65340045-65340046	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs545418484	chr11:65340119-65340120	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs111757605	chr11:65340132-65340133	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs10896017	chr11:65340135-65340136	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs572502397	chr11:65340151-65340152	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs541522693	chr11:65340368-65340369	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs372719527	chr11:65340369-65340370	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs561339898	chr11:65340381-65340382	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs375660890	chr11:65340399-65340400	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs112836159	chr11:65340443-65340444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs530220497	chr11:65340444-65340445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs577287521	chr11:65340451-65340452	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs113308199	chr11:65340497-65340498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs564660830	chr11:65340567-65340568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs563376960	chr11:65340629-65340630	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs532431622	chr11:65340634-65340635	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs552213951	chr11:65340637-65340638	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs186744049	chr11:65340754-65340755	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs200288509	chr11:65340872-65340873	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs372365704	chr11:65340881-65340882	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs142713898	chr11:65340887-65340888	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs375388891	chr11:65340914-65340915	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs368440853	chr11:65340918-65340919	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs371857037	chr11:65340923-65340924	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs374813667	chr11:65340950-65340951	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs528042118	chr11:65340952-65340953	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs370112689	chr11:65340954-65340955	Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65336600-65339800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:65336600-65340800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:65337000-65340400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:65337800-65340000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:65338000-65339800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:65338000-65339800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:65338000-65339800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:65338000-65339800	Flanking Active TSS	Colonic Mucosa	Colon
9	chr11:65338000-65339800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:65338000-65340000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr11:65338000-65340000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:65338000-65340000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr11:65338000-65340000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:65338000-65340000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr11:65338000-65341600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:65338000-65345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:65338200-65339600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr11:65338200-65339800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr11:65338200-65339800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr11:65338200-65339800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr11:65338200-65339800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr11:65338200-65339800	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr11:65338200-65339800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr11:65338200-65339800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:65338200-65339800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:65338200-65339800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr11:65338200-65339800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:65338200-65340000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr11:65338200-65340000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:65338200-65340000	Flanking Active TSS	Liver	Liver
31	chr11:65338200-65340000	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:65338200-65340000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:65338400-65339600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:65338400-65339600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:65338400-65339600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr11:65338400-65339600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:65338400-65339600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:65338400-65339600	Flanking Active TSS	Fetal Brain Female	brain
39	chr11:65338400-65339600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:65338400-65339800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:65338400-65339800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:65338400-65339800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:65338400-65339800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:65338400-65339800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:65338400-65339800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:65338400-65339800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:65338400-65339800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr11:65338400-65339800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:65338400-65339800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:65338400-65339800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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