Variant report

Variant	esv3335687
Chromosome Location	chr11:67168076-67170524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:725)
CpG islands
(count:796)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:67169656-67169856	K562	blood:	n/a	n/a
2	BACH1	chr11:67169557-67169837	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr11:67167742-67168945	A549	lung:	n/a	chr11:67168838-67168847
4	BCL3	chr11:67167780-67168601	A549	lung:	n/a	n/a
5	BCLAF1	chr11:67168981-67169347	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:67169489-67169708	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:67168817-67169288	GM12878	blood:	n/a	chr11:67169056-67169072
8	BHLHE40	chr11:67168891-67169307	K562	blood:	n/a	chr11:67169056-67169072
9	BRCA1	chr11:67168453-67168794	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr11:67169122-67169319	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr11:67168591-67169858	K562	blood:	n/a	n/a
12	CCNT2	chr11:67168793-67169574	K562	blood:	n/a	n/a
13	CEBPD	chr11:67168968-67169411	HepG2	liver:	n/a	n/a
14	CEBPD	chr11:67168870-67169574	HepG2	liver:	n/a	n/a
15	CHD1	chr11:67168389-67169149	GM12878	blood:	n/a	chr11:67169002-67169012
16	CHD1	chr11:67167968-67169978	IMR90	lung:	n/a	chr11:67169002-67169012
17	CHD1	chr11:67169519-67169892	GM12878	blood:	n/a	n/a
18	CHD2	chr11:67168477-67168760	K562	blood:	n/a	n/a
19	CHD2	chr11:67168499-67168756	HepG2	liver:	n/a	n/a
20	CHD2	chr11:67169156-67169244	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr11:67169151-67169335	GM12878	blood:	n/a	n/a
22	CHD2	chr11:67168933-67169749	Hela-S3	cervix:	n/a	chr11:67169002-67169012
23	CHD2	chr11:67169014-67169184	K562	blood:	n/a	n/a
24	CHD2	chr11:67169570-67169766	GM12878	blood:	n/a	n/a
25	CHD2	chr11:67168606-67168628	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:67168537-67168638	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr11:67168568-67169662	A549	lung:	n/a	n/a
28	CREB1	chr11:67168772-67169848	HepG2	liver:	n/a	n/a
29	CREB1	chr11:67168799-67169788	GM12878	blood:	n/a	n/a
30	CTCF	chr11:67168960-67169110	AG09319	gingival:	n/a	chr11:67168982-67168995
31	CTCF	chr11:67168913-67169170	GM12891	blood:	n/a	chr11:67168982-67168995
32	CTCF	chr11:67168980-67169130	GM12871	blood:	n/a	chr11:67168982-67168995
33	CTCF	chr11:67169354-67169584	GM10266	blood:	n/a	n/a
34	CTCF	chr11:67169360-67169510	GM12866	blood:	n/a	n/a
35	CTCF	chr11:67169340-67169490	GM12865	blood:	n/a	n/a
36	CTCF	chr11:67168920-67169070	HCPEpiC	choroid plexus:	n/a	chr11:67168982-67168995
37	CTCF	chr11:67169400-67169550	AG04450	lung:	n/a	n/a
38	CTCF	chr11:67168940-67169090	HepG2	liver:	n/a	chr11:67168982-67168995
39	CTCF	chr11:67169380-67169530	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:67169400-67169550	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr11:67169300-67169450	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr11:67169400-67169550	NHEK	skin:	n/a	n/a
43	CTCF	chr11:67169320-67169470	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr11:67169320-67169470	GM12878	blood:	n/a	n/a
45	CTCF	chr11:67168980-67169130	GM12874	blood:	n/a	chr11:67168982-67168995
46	CTCF	chr11:67169320-67169470	HMEC	breast:	n/a	n/a
47	CTCF	chr11:67168897-67169167	GM10266	blood:	n/a	chr11:67168982-67168995
48	CTCF	chr11:67168960-67169110	Hela-S3	cervix:	n/a	chr11:67168982-67168995
49	CTCF	chr11:67169380-67169530	BJ	skin:	n/a	n/a
50	CTCF	chr11:67168980-67169130	GM12868	blood:	n/a	chr11:67168982-67168995

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67169262-67169312	RPTEC	kidney:	n/a
2	chr11:67169813-67169863	ECC-1	luminal epithelium:	n/a
3	chr11:67169500-67169550	BE2_C	brain:	n/a
4	chr11:67169262-67169312	RPTEC	kidney:	n/a
5	chr11:67169813-67169863	ECC-1	luminal epithelium:	n/a
6	chr11:67169500-67169550	BE2_C	brain:	n/a
7	chr11:67169173-67169223	HEK293	kidney:	embryo
8	chr11:67169560-67169610	HRPEpiC	eye:	n/a
9	chr11:67169531-67169581	HUVEC	blood vessel:	n/a
10	chr11:67169517-67169567	CMK	blood:	n/a
11	chr11:67169076-67169126	CMK	blood:	n/a
12	chr11:67169813-67169863	Hepatocyte	liver:	n/a
13	chr11:67169368-67169418	SK-N-SH_RA	brain:	n/a
14	chr11:67169262-67169312	SAEC	small airway:	n/a
15	chr11:67169262-67169312	NHBE	bronchial:	n/a
16	chr11:67168617-67168667	GM12892	blood:	n/a
17	chr11:67169517-67169567	U87	brain:	n/a
18	chr11:67169813-67169863	MCF10A-Er-Src	breast:	n/a
19	chr11:67169070-67169120	BE2_C	brain:	n/a
20	chr11:67169517-67169567	AG09319	gingival:	n/a
21	chr11:67169560-67169610	GM19239	blood:	n/a
22	chr11:67169500-67169550	NHBE	bronchial:	n/a
23	chr11:67169560-67169610	NH-A	brain:	n/a
24	chr11:67169262-67169312	GM19239	blood:	n/a
25	chr11:67169500-67169550	ProgFib	skin:	n/a
26	chr11:67169517-67169567	T-47D	breast:	n/a
27	chr11:67169560-67169610	ProgFib	skin:	n/a
28	chr11:67168528-67168578	ECC-1	luminal epithelium:	n/a
29	chr11:67169368-67169418	Jurkat	blood:	n/a
30	chr11:67169070-67169120	A549	lung:	n/a
31	chr11:67169813-67169863	IMR90	lung:	fetal
32	chr11:67169070-67169120	BJ	skin:	n/a
33	chr11:67169076-67169126	SK-N-SH_RA	brain:	n/a
34	chr11:67169173-67169223	PANC-1	pancreas:	n/a
35	chr11:67169517-67169567	BE2_C	brain:	n/a
36	chr11:67168821-67168871	HCF	heart:	n/a
37	chr11:67169173-67169223	RPTEC	kidney:	n/a
38	chr11:67169368-67169418	CMK	blood:	n/a
39	chr11:67168821-67168871	HCPEpiC	choroid plexus:	n/a
40	chr11:67169262-67169312	U87	brain:	n/a
41	chr11:67169560-67169610	Caco-2	colon:	n/a
42	chr11:67169813-67169863	HNPCEpiC	eye:	n/a
43	chr11:67169070-67169120	AG09309	skin:	n/a
44	chr11:67169531-67169581	GM19239	blood:	n/a
45	chr11:67168821-67168871	PANC-1	pancreas:	n/a
46	chr11:67169070-67169120	MCF10A-Er-Src	breast:	n/a
47	chr11:67169813-67169863	U87	brain:	n/a
48	chr11:67169368-67169418	A549	lung:	n/a
49	chr11:67169070-67169120	PrEC	prostate:	n/a
50	chr11:67169517-67169567	HRCEpiC	kidney:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67168411..67169285-chr15:52860702..52861287,2	Hela-S3	cervix:
2	chr11:67168850..67169890-chr12:120729044..120730035,3	Hela-S3	cervix:
3	chr1:154155826..154156719-chr11:67168555..67169361,2	Hela-S3	cervix:
4	chr11:67077536..67079238-chr11:67167960..67169718,2	K562	blood:
5	chr11:67168546..67169541-chr11:67273014..67274216,5	K562	blood:
6	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
7	chr11:67169020..67169539-chr7:56118633..56119205,2	Hela-S3	cervix:
8	chr11:67167808..67170779-chr11:67274850..67277472,4	MCF-7	breast:
9	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
10	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
11	chr11:67168900..67169444-chr12:123717028..123717926,2	Hela-S3	cervix:
12	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
13	chr11:67168890..67169791-chr16:19078681..19079294,2	Hela-S3	cervix:
14	chr11:67168861..67169503-chr11:67195685..67196520,2	Hela-S3	cervix:
15	chr11:67168661..67169425-chr16:770592..771488,2	Hela-S3	cervix:
16	chr11:67168670..67169414-chr15:49461835..49462824,2	Hela-S3	cervix:
17	chr11:67167196..67169719-chr11:67288848..67291954,3	K562	blood:
18	chr11:67168823..67169561-chr18:3262323..3262864,2	Hela-S3	cervix:
19	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
20	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
21	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
22	chr11:67168934..67169507-chr11:67236427..67237207,3	MCF-7	breast:
23	chr11:67169390..67171344-chr11:67351281..67353180,2	K562	blood:
24	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
25	chr11:67168566..67169398-chr15:72523101..72523869,2	Hela-S3	cervix:
26	chr11:67169719..67170476-chr11:67195567..67196420,2	MCF-7	breast:
27	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
28	chr11:67168977..67169771-chr11:67188130..67189217,5	K562	blood:
29	chr11:67169458..67170981-chr11:67395098..67397587,2	K562	blood:
30	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
31	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
32	chr11:67168723..67169834-chr11:67273315..67274170,3	MCF-7	breast:
33	chr11:67168776..67169580-chr12:52450259..52450813,2	Hela-S3	cervix:
34	chr11:67167945..67169780-chr17:81036626..81038830,2	MCF-7	breast:
35	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
36	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1CA	TF binding region
TBC1D10C	TF binding region
PPP1CA	CpG island
TBC1D10C	CpG island
ENSG00000156958	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000176845	chromatin interactions
ENSG00000118680	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000103254	chromatin interactions
ENSG00000146733	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000167186	chromatin interactions
ENSG00000175544	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000175514	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000261465	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000167791	chromatin interactions
ENSG00000175505	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547726327	chr11:67168076-67168077	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs527619407	chr11:67168101-67168102	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs367849553	chr11:67168117-67168118	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs370135174	chr11:67168145-67168146	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs367543170	chr11:67168170-67168171	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs376168687	chr11:67168203-67168204	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs368449642	chr11:67168240-67168241	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs202232732	chr11:67168290-67168291	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs367543171	chr11:67168292-67168293	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs376574132	chr11:67168293-67168294	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs11542939	chr11:67168308-67168309	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs111786575	chr11:67168332-67168333	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs368335875	chr11:67168333-67168334	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs147883539	chr11:67168338-67168339	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs112122309	chr11:67168392-67168393	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs531704361	chr11:67168394-67168395	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs372262050	chr11:67168414-67168415	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs375624411	chr11:67168425-67168426	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs568463382	chr11:67168427-67168428	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs185782495	chr11:67168443-67168444	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs375115164	chr11:67168552-67168553	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs149747203	chr11:67168582-67168583	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs368968813	chr11:67168609-67168610	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs547598243	chr11:67168617-67168618	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs374018164	chr11:67168755-67168756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs376314331	chr11:67168756-67168757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs377083468	chr11:67168760-67168761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs369847678	chr11:67168791-67168792	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs116691535	chr11:67168802-67168803	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs539771463	chr11:67168823-67168824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs558125838	chr11:67168838-67168839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs576811711	chr11:67168839-67168840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs537446900	chr11:67168847-67168848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs556197829	chr11:67168868-67168869	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs574463708	chr11:67168877-67168878	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
36	rs542030113	chr11:67168929-67168930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs560419399	chr11:67168964-67168965	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs572370907	chr11:67169001-67169002	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs569844187	chr11:67169012-67169013	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs538627571	chr11:67169033-67169034	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
41	rs564384036	chr11:67169035-67169036	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs114379450	chr11:67169057-67169058	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs370214364	chr11:67169173-67169174	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs375439381	chr11:67169177-67169178	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
45	rs368711579	chr11:67169269-67169270	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs370928077	chr11:67169287-67169288	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
47	rs529400097	chr11:67169311-67169312	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs547563812	chr11:67169331-67169332	Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
49	rs565979570	chr11:67169335-67169336	Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
50	rs539734569	chr11:67169341-67169342	Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67164800-67168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:67166400-67168200	Genic enhancers	Spleen	Spleen
4	chr11:67166400-67168400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr11:67166400-67168600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:67166800-67168200	Enhancers	Fetal Brain Male	brain
7	chr11:67167000-67168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:67167000-67168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:67167000-67168200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
10	chr11:67167200-67168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:67167600-67168200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:67167600-67168400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67167600-67168400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
14	chr11:67167600-67168400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:67167600-67168400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:67167600-67168400	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
17	chr11:67167600-67168400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
18	chr11:67167600-67168400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
19	chr11:67167600-67168600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:67167600-67168600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:67167600-67168600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:67167600-67168600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr11:67167600-67168600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
24	chr11:67167600-67168600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
25	chr11:67167600-67168600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
26	chr11:67167600-67168600	Flanking Active TSS	Hela-S3	cervix
27	chr11:67167600-67168600	Transcr. at gene 5' and 3'	NHLF	lung
28	chr11:67167600-67168800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
29	chr11:67167600-67168800	Flanking Active TSS	NH-A	brain
30	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr11:67167800-67168200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:67167800-67168200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr11:67167800-67168200	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
36	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
37	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
39	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
41	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
42	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
43	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Placenta	Placenta
44	chr11:67167800-67168200	Enhancers	Ovary	ovary
45	chr11:67167800-67168200	Enhancers	Right Atrium	heart
46	chr11:67167800-67168200	Transcr. at gene 5' and 3'	Right Ventricle	heart
47	chr11:67167800-67168200	Enhancers	Small Intestine	intestine
48	chr11:67167800-67168200	Transcr. at gene 5' and 3'	A549	lung
49	chr11:67167800-67168200	Flanking Active TSS	HepG2	liver
50	chr11:67167800-67168200	Flanking Active TSS	HSMM	muscle

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