Variant report

Variant	esv3444925
Chromosome Location	chr11:65687425-65714023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:711)
CpG islands
(count:732)
Chromatin interactive
region (count:49)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:711 , 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	ARID3A	chr11:65701491-65701894	K562	blood:	n/a	n/a
2	ARID3A	chr11:65708917-65709235	K562	blood:	n/a	n/a
3	ARID3A	chr11:65712446-65712465	HepG2	liver:	n/a	n/a
4	ATF1	chr11:65708878-65709234	K562	blood:	n/a	n/a
5	ATF2	chr11:65699981-65700388	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:65713541-65713976	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:65695439-65695976	GM12878	blood:	n/a	n/a
8	ATF2	chr11:65695344-65695841	GM12878	blood:	n/a	n/a
9	ATF3	chr11:65699879-65700283	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr11:65708869-65709233	K562	blood:	n/a	n/a
11	ATF3	chr11:65699972-65700269	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr11:65699978-65700271	K562	blood:	n/a	n/a
13	BCLAF1	chr11:65695336-65695963	GM12878	blood:	n/a	chr11:65695707-65695716
14	BCLAF1	chr11:65695341-65695885	GM12878	blood:	n/a	chr11:65695707-65695716
15	BHLHE40	chr11:65700122-65700198	K562	blood:	n/a	n/a
16	BHLHE40	chr11:65695572-65695861	GM12878	blood:	n/a	n/a
17	BHLHE40	chr11:65701685-65701756	K562	blood:	n/a	n/a
18	BHLHE40	chr11:65708765-65709261	K562	blood:	n/a	n/a
19	BRCA1	chr11:65695639-65695717	GM12878	blood:	n/a	n/a
20	BRCA1	chr11:65713003-65713257	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr11:65699999-65700334	K562	blood:	n/a	n/a
22	CBX3	chr11:65708632-65709420	K562	blood:	n/a	n/a
23	CCNT2	chr11:65708981-65709192	K562	blood:	n/a	n/a
24	CEBPB	chr11:65700817-65700927	A549	lung:	n/a	chr11:65700881-65700892
25	CEBPB	chr11:65702055-65702300	K562	blood:	n/a	chr11:65702183-65702194
26	CEBPB	chr11:65696277-65696395	K562	blood:	n/a	n/a
27	CEBPB	chr11:65702035-65702342	HepG2	liver:	n/a	chr11:65702183-65702194
28	CEBPB	chr11:65702133-65702241	H1-hESC	embryonic stem cell:	n/a	chr11:65702183-65702194
29	CEBPB	chr11:65702031-65702327	IMR90	lung:	n/a	chr11:65702183-65702194
30	CEBPB	chr11:65708863-65709175	IMR90	lung:	n/a	n/a
31	CEBPB	chr11:65712436-65712551	IMR90	lung:	n/a	chr11:65712512-65712523
32	CEBPB	chr11:65702008-65702426	A549	lung:	n/a	chr11:65702183-65702194
33	CEBPB	chr11:65702068-65702336	K562	blood:	n/a	chr11:65702183-65702194
34	CEBPB	chr11:65702081-65702294	A549	lung:	n/a	chr11:65702183-65702194
35	CEBPB	chr11:65707517-65707632	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr11:65700821-65700962	HepG2	liver:	n/a	chr11:65700881-65700892
37	CEBPB	chr11:65700755-65700943	IMR90	lung:	n/a	chr11:65700881-65700892
38	CEBPB	chr11:65701975-65702352	HepG2	liver:	n/a	chr11:65702183-65702194
39	CEBPB	chr11:65712382-65712604	HepG2	liver:	n/a	chr11:65712512-65712523
40	CEBPB	chr11:65702074-65702261	HepG2	liver:	n/a	chr11:65702183-65702194
41	CEBPB	chr11:65695390-65696023	GM12878	blood:	n/a	n/a
42	CEBPB	chr11:65712346-65712635	HepG2	liver:	n/a	chr11:65712512-65712523
43	CEBPB	chr11:65700745-65701008	K562	blood:	n/a	chr11:65700881-65700892
44	CEBPB	chr11:65702044-65702379	MCF-7	breast:	n/a	chr11:65702183-65702194
45	CEBPB	chr11:65707536-65707657	K562	blood:	n/a	n/a
46	CEBPB	chr11:65702060-65702343	K562	blood:	n/a	chr11:65702183-65702194
47	CEBPB	chr11:65700708-65701015	K562	blood:	n/a	chr11:65700881-65700892
48	CEBPD	chr11:65701536-65701975	K562	blood:	n/a	n/a
49	CEBPD	chr11:65708830-65709351	K562	blood:	n/a	n/a
50	CEBPD	chr11:65701485-65701926	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65712826-65712876	BJ	skin:	n/a
2	chr11:65689572-65689622	HL-60	blood:	n/a
3	chr11:65687479-65687529	HMEC	breast:	n/a
4	chr11:65711834-65711884	NB4	blood:	n/a
5	chr11:65712826-65712876	PrEC	prostate:	n/a
6	chr11:65689572-65689622	GM06990	blood:	n/a
7	chr11:65709117-65709167	SK-N-SH	brain:	n/a
8	chr11:65695774-65695824	HRE	kidney:	n/a
9	chr11:65713122-65713172	Caco-2	colon:	n/a
10	chr11:65711834-65711884	SK-N-SH_RA	brain:	n/a
11	chr11:65711834-65711884	HEK293	kidney:	embryo
12	chr11:65713893-65713943	HMEC	breast:	n/a
13	chr11:65687892-65687942	PANC-1	pancreas:	n/a
14	chr11:65712826-65712876	ProgFib	skin:	n/a
15	chr11:65712968-65713018	A549	lung:	n/a
16	chr11:65713893-65713943	Hepatocyte	liver:	n/a
17	chr11:65712296-65712346	HL-60	blood:	n/a
18	chr11:65687892-65687942	SK-N-MC	brain:	n/a
19	chr11:65712296-65712346	HUVEC	blood vessel:	n/a
20	chr11:65712826-65712876	SK-N-SH	brain:	n/a
21	chr11:65687479-65687529	H1-hESC	embryonic stem cell:	embryo
22	chr11:65687892-65687942	HRCEpiC	kidney:	n/a
23	chr11:65711834-65711884	HepG2	liver:	n/a
24	chr11:65711834-65711884	HEEpiC	esophagus:	n/a
25	chr11:65687877-65687927	SK-N-MC	brain:	n/a
26	chr11:65713893-65713943	BJ	skin:	n/a
27	chr11:65687877-65687927	A549	lung:	n/a
28	chr11:65689572-65689622	NB4	blood:	n/a
29	chr11:65712826-65712876	RPTEC	kidney:	n/a
30	chr11:65709117-65709167	SKMC	muscle:	n/a
31	chr11:65713122-65713172	SK-N-SH	brain:	n/a
32	chr11:65712968-65713018	AG04450	lung:	fetal
33	chr11:65712296-65712346	Hepatocyte	liver:	n/a
34	chr11:65689572-65689622	Jurkat	blood:	n/a
35	chr11:65687892-65687942	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:65687892-65687942	NHBE	bronchial:	n/a
37	chr11:65695774-65695824	Jurkat	blood:	n/a
38	chr11:65709117-65709167	GM12892	blood:	n/a
39	chr11:65709117-65709167	AoSMC	blood vessel:	n/a
40	chr11:65713893-65713943	HCPEpiC	choroid plexus:	n/a
41	chr11:65687877-65687927	MCF-7	breast:	n/a
42	chr11:65713893-65713943	BE2_C	brain:	n/a
43	chr11:65687892-65687942	NH-A	brain:	n/a
44	chr11:65709117-65709167	ECC-1	luminal epithelium:	n/a
45	chr11:65713893-65713943	K562	blood:	n/a
46	chr11:65712968-65713018	ovcar-3	ovarian:	n/a
47	chr11:65712826-65712876	Hela-S3	cervix:	n/a
48	chr11:65687892-65687942	HEEpiC	esophagus:	n/a
49	chr11:65687877-65687927	SK-N-SH	brain:	n/a
50	chr11:65712296-65712346	HRE	kidney:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
2	chr11:65713309..65715025-chr11:65726404..65729230,2	MCF-7	breast:
3	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
4	chr11:65686637..65688948-chr11:65818033..65819758,2	MCF-7	breast:
5	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
6	chr11:65707539..65709417-chr11:65726297..65729283,2	K562	blood:
7	chr11:65686028..65688370-chr14:24657521..24659456,2	MCF-7	breast:
8	chr11:65656237..65656923-chr11:65699586..65700172,2	K562	blood:
9	chr11:65690547..65693010-chr11:65707576..65709212,2	MCF-7	breast:
10	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
11	chr11:65700259..65702613-chr11:65727526..65729683,2	MCF-7	breast:
12	chr11:65707684..65710207-chr11:65726207..65729046,2	MCF-7	breast:
13	chr11:65708763..65711558-chr11:65724262..65726531,2	MCF-7	breast:
14	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
15	chr11:65654434..65656570-chr11:65699058..65700716,2	MCF-7	breast:
16	chr11:65700136..65700656-chr8:43092411..43092929,2	MCF-7	breast:
17	chr11:65707235..65710097-chr11:65711541..65713531,2	MCF-7	breast:
18	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
19	chr11:65687555..65689497-chr11:65697887..65700261,3	MCF-7	breast:
20	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
21	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
22	chr11:65707413..65709091-chr11:65713572..65715917,2	K562	blood:
23	chr11:65690883..65692815-chr11:65804692..65807223,2	K562	blood:
24	chr11:65704384..65705897-chr11:65711287..65713410,2	K562	blood:
25	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
26	chr11:65625517..65628088-chr11:65710841..65713644,2	MCF-7	breast:
27	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
28	chr11:65702981..65706998-chr11:65711447..65715062,3	MCF-7	breast:
29	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
30	chr11:65685704..65687769-chr16:2199138..2200731,2	MCF-7	breast:
31	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
32	chr11:65690547..65693010-chr11:65707576..65709212,2	MCF-7	breast:
33	chr11:65707413..65709091-chr11:65713572..65715917,2	K562	blood:
34	chr11:65383137..65385926-chr11:65685879..65687522,2	MCF-7	breast:
35	chr11:65695024..65697839-chr11:65700291..65702313,2	MCF-7	breast:
36	chr11:65707662..65710085-chr11:65713646..65716694,3	MCF-7	breast:
37	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
38	chr11:65657110..65659660-chr11:65699000..65702275,4	MCF-7	breast:
39	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
40	chr11:65685854..65687838-chr13:92002138..92004111,2	K562	blood:
41	chr11:65695024..65697839-chr11:65700291..65702313,2	MCF-7	breast:
42	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
43	chr11:65707662..65710085-chr11:65713646..65716694,3	MCF-7	breast:
44	chr11:65699308..65702229-chr11:65725345..65726917,2	MCF-7	breast:
45	chr11:65691030..65693972-chr11:65728141..65730405,2	MCF-7	breast:
46	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
47	chr11:65685795..65689650-chr11:65696551..65700484,6	MCF-7	breast:
48	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
49	chr11:65655539..65656195-chr11:65713426..65714221,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SART1-1	chr11:65713115-65713293	ENSG00000175513
2	lnc-DRAP1-1	chr11:65688523-65688996	NONHSAT022244
3	lnc-SART1-1	chr11:65713162-65713337	ENSG00000175513

No data

Variant related genes	Relation type
TSGA10IP	TF binding region
C11orf68	TF binding region
DRAP1	TF binding region
TSGA10IP	CpG island
C11orf68	CpG island
DRAP1	CpG island
ENSG00000255120	chromatin interactions
ENSG00000175513	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000255038	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000175467	chromatin interactions
ENSG00000167964	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000175573	chromatin interactions

Extended variants
information (count: 1107 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553006242	chr11:65687438-65687439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
2	rs11546556	chr11:65687495-65687496	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs143982811	chr11:65687503-65687504	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs201189709	chr11:65687511-65687512	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs113300200	chr11:65687514-65687515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs386754405	chr11:65687527-65687528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs202119315	chr11:65687528-65687529	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs370004144	chr11:65687539-65687540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs201120412	chr11:65687548-65687549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs34218596	chr11:65687551-65687552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
11	rs35127619	chr11:65687553-65687554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
12	rs559763264	chr11:65687565-65687566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
13	rs528279547	chr11:65687575-65687576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
14	rs35435339	chr11:65687605-65687606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs547932379	chr11:65687637-65687638	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs145675717	chr11:65687643-65687644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
17	rs377464384	chr11:65687669-65687670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs536936713	chr11:65687684-65687685	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
19	rs148584514	chr11:65687685-65687686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
20	rs570376296	chr11:65687697-65687698	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
21	rs368432489	chr11:65687713-65687714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
22	rs539387830	chr11:65687717-65687718	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs552804967	chr11:65687753-65687754	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs368222398	chr11:65687764-65687765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs572931593	chr11:65687779-65687780	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs200452454	chr11:65687789-65687790	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs374038873	chr11:65687799-65687800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs202098372	chr11:65687805-65687806	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs374831286	chr11:65687807-65687808	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs146410197	chr11:65687868-65687869	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs140904739	chr11:65687881-65687882	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs575245089	chr11:65687889-65687890	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs143062944	chr11:65687893-65687894	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs151099746	chr11:65687907-65687908	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs543738162	chr11:65687908-65687909	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs141033990	chr11:65687909-65687910	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs35633898	chr11:65687911-65687912	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs376250261	chr11:65687916-65687917	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs371036532	chr11:65687922-65687923	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs150283691	chr11:65687929-65687930	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs372900482	chr11:65687945-65687946	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs377244740	chr11:65687955-65687956	Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs557603164	chr11:65688011-65688012	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs577182268	chr11:65688020-65688021	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs564598647	chr11:65688021-65688022	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs546136998	chr11:65688028-65688029	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs368472384	chr11:65688045-65688046	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs138940221	chr11:65688088-65688089	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs528558933	chr11:65688094-65688095	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs370429317	chr11:65688100-65688101	Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65685200-65688000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:65685400-65688000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:65685400-65688000	Active TSS	Aorta	Aorta
4	chr11:65685400-65688400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:65685600-65687600	Active TSS	Ovary	ovary
6	chr11:65685600-65687600	Active TSS	Psoas Muscle	Psoas
7	chr11:65685600-65687800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:65685600-65687800	Active TSS	Small Intestine	intestine
9	chr11:65685600-65688000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:65685600-65688200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:65685600-65688200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:65685800-65687600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:65685800-65687600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:65685800-65687600	Active TSS	Brain Hippocampus Middle	brain
15	chr11:65685800-65687600	Active TSS	Esophagus	oesophagus
16	chr11:65685800-65687600	Active TSS	Fetal Brain Female	brain
17	chr11:65685800-65687600	Active TSS	Fetal Intestine Large	intestine
18	chr11:65685800-65687600	Active TSS	Fetal Lung	lung
19	chr11:65685800-65687600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr11:65685800-65687600	Active TSS	Thymus	Thymus
21	chr11:65685800-65687600	Active TSS	A549	lung
22	chr11:65685800-65687800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:65685800-65687800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:65685800-65687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:65685800-65687800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:65685800-65687800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65685800-65687800	Active TSS	Colon Smooth Muscle	Colon
28	chr11:65685800-65687800	Active TSS	Gastric	stomach
29	chr11:65685800-65687800	Active TSS	Left Ventricle	heart
30	chr11:65685800-65687800	Active TSS	Lung	lung
31	chr11:65685800-65687800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:65685800-65687800	Active TSS	HSMM	muscle
33	chr11:65685800-65687800	Active TSS	NHLF	lung
34	chr11:65685800-65688000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:65685800-65688000	Active TSS	Fetal Kidney	kidney
36	chr11:65685800-65688000	Active TSS	NHDF-Ad	bronchial
37	chr11:65685800-65688200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:65685800-65688200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:65686000-65687600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:65686000-65687600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:65686000-65687600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:65686000-65687600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:65686000-65687600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:65686000-65687600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:65686000-65687600	Active TSS	Brain Anterior Caudate	brain
46	chr11:65686000-65687600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65686000-65687600	Active TSS	Duodenum Mucosa	Duodenum
48	chr11:65686000-65687600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr11:65686000-65687600	Active TSS	Fetal Muscle Leg	muscle
50	chr11:65686000-65687600	Active TSS	Rectal Mucosa Donor 29	rectum

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