Variant report

Variant	esv3360321
Chromosome Location	chr11:120205767-120208715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1088)
CpG islands
(count:854)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:120206537-120207123	K562	blood:	n/a	n/a
2	ARID3A	chr11:120205640-120207137	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:120207941-120209083	HepG2	liver:	n/a	chr11:120208481-120208497
4	ARID3A	chr11:120205588-120206134	K562	blood:	n/a	n/a
5	ARID3A	chr11:120207896-120209451	K562	blood:	n/a	chr11:120208481-120208497
6	ATF1	chr11:120205552-120205979	K562	blood:	n/a	n/a
7	ATF2	chr11:120206690-120207044	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:120206453-120207113	GM12878	blood:	n/a	n/a
9	ATF2	chr11:120206653-120207058	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:120205568-120206066	GM12878	blood:	n/a	n/a
11	ATF3	chr11:120206647-120207033	A549	lung:	n/a	n/a
12	ATF3	chr11:120206607-120207200	A549	lung:	n/a	chr11:120207124-120207132 chr11:120207100-120207109
13	ATF3	chr11:120206676-120207055	K562	blood:	n/a	n/a
14	BACH1	chr11:120208073-120208531	K562	blood:	n/a	n/a
15	BACH1	chr11:120207347-120207374	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:120205618-120206091	GM12878	blood:	n/a	n/a
17	BATF	chr11:120206731-120207038	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:120206799-120206960	H1-hESC	embryonic stem cell:	n/a	chr11:120206908-120206917
19	BCL3	chr11:120206658-120207281	GM12878	blood:	n/a	chr11:120206908-120206917
20	BCL3	chr11:120206664-120207125	A549	lung:	n/a	chr11:120206908-120206917
21	BCLAF1	chr11:120206585-120207174	GM12878	blood:	n/a	chr11:120206908-120206917
22	BCLAF1	chr11:120206411-120207416	GM12878	blood:	n/a	chr11:120206908-120206917 chr11:120207349-120207362
23	BCLAF1	chr11:120206514-120207226	K562	blood:	n/a	chr11:120206908-120206917
24	BHLHE40	chr11:120206344-120207149	GM12878	blood:	n/a	n/a
25	BHLHE40	chr11:120206441-120207853	K562	blood:	n/a	chr11:120207349-120207365 chr11:120207484-120207500 chr11:120207602-120207618
26	BHLHE40	chr11:120206465-120207035	HepG2	liver:	n/a	n/a
27	BHLHE40	chr11:120208209-120209036	K562	blood:	n/a	n/a
28	BRCA1	chr11:120207614-120207927	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr11:120206751-120207203	HepG2	liver:	n/a	n/a
30	BRCA1	chr11:120205626-120206298	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr11:120207544-120207990	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr11:120206713-120207063	GM12878	blood:	n/a	n/a
33	BRCA1	chr11:120206722-120207069	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr11:120206725-120207049	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr11:120206610-120207150	K562	blood:	n/a	n/a
36	CCNT2	chr11:120206375-120207714	K562	blood:	n/a	chr11:120206949-120206958 chr11:120207605-120207614
37	CEBPB	chr11:120205607-120206093	K562	blood:	n/a	chr11:120205769-120205780
38	CEBPB	chr11:120205661-120206123	A549	lung:	n/a	chr11:120205769-120205780
39	CEBPB	chr11:120206565-120207446	K562	blood:	n/a	n/a
40	CEBPB	chr11:120206811-120207426	IMR90	lung:	n/a	n/a
41	CEBPB	chr11:120205610-120206145	ECC-1	luminal epithelium:	n/a	chr11:120205769-120205780
42	CEBPB	chr11:120205610-120206149	A549	lung:	n/a	chr11:120205769-120205780
43	CEBPB	chr11:120206679-120206946	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr11:120206644-120207443	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr11:120205627-120206101	HepG2	liver:	n/a	chr11:120205769-120205780
46	CEBPB	chr11:120207152-120207407	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr11:120205596-120206130	IMR90	lung:	n/a	chr11:120205769-120205780
48	CEBPB	chr11:120206496-120207501	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr11:120206855-120207425	HepG2	liver:	n/a	n/a
50	CEBPB	chr11:120205570-120206184	Hela-S3	cervix:	n/a	chr11:120206156-120206167 chr11:120205769-120205780

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120207748-120207798	H1-hESC	embryonic stem cell:	embryo
2	chr11:120208324-120208374	Caco-2	colon:	n/a
3	chr11:120206550-120206600	T-47D	breast:	n/a
4	chr11:120207435-120207485	T-47D	breast:	n/a
5	chr11:120207803-120207853	HRE	kidney:	n/a
6	chr11:120207433-120207483	ovcar-3	ovarian:	n/a
7	chr11:120207979-120208029	SK-N-SH_RA	brain:	n/a
8	chr11:120207433-120207483	ECC-1	luminal epithelium:	n/a
9	chr11:120207435-120207485	HEK293	kidney:	embryo
10	chr11:120207979-120208029	BJ	skin:	n/a
11	chr11:120207780-120207830	NHDF-neo	bronchial:	n/a
12	chr11:120207939-120207989	Hela-S3	cervix:	n/a
13	chr11:120207979-120208029	AG04449	skin:	fetal
14	chr11:120206932-120206982	HRE	kidney:	n/a
15	chr11:120207786-120207836	AoSMC	blood vessel:	n/a
16	chr11:120207939-120207989	AG04450	lung:	fetal
17	chr11:120207433-120207483	HRE	kidney:	n/a
18	chr11:120206932-120206982	HIPEpiC	eye:	n/a
19	chr11:120206550-120206600	HMEC	breast:	n/a
20	chr11:120206932-120206982	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:120207780-120207830	ECC-1	luminal epithelium:	n/a
22	chr11:120207786-120207836	HRCEpiC	kidney:	n/a
23	chr11:120207979-120208029	BE2_C	brain:	n/a
24	chr11:120207435-120207485	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:120207435-120207485	U87	brain:	n/a
26	chr11:120207939-120207989	HCT-116	colon:	n/a
27	chr11:120207435-120207485	HCM	heart:	n/a
28	chr11:120207786-120207836	AG09309	skin:	n/a
29	chr11:120207748-120207798	Hela-S3	cervix:	n/a
30	chr11:120207979-120208029	NHDF-neo	bronchial:	n/a
31	chr11:120208005-120208055	NB4	blood:	n/a
32	chr11:120207979-120208029	IMR90	lung:	fetal
33	chr11:120207748-120207798	NHBE	bronchial:	n/a
34	chr11:120207786-120207836	Jurkat	blood:	n/a
35	chr11:120207786-120207836	HCM	heart:	n/a
36	chr11:120207748-120207798	AoSMC	blood vessel:	n/a
37	chr11:120206461-120206511	SK-N-SH_RA	brain:	n/a
38	chr11:120208324-120208374	K562	blood:	n/a
39	chr11:120206461-120206511	HL-60	blood:	n/a
40	chr11:120207786-120207836	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:120207435-120207485	HCF	heart:	n/a
42	chr11:120207748-120207798	HCM	heart:	n/a
43	chr11:120206461-120206511	HCPEpiC	choroid plexus:	n/a
44	chr11:120206574-120206624	AG09309	skin:	n/a
45	chr11:120206461-120206511	NH-A	brain:	n/a
46	chr11:120207979-120208029	H1-hESC	embryonic stem cell:	embryo
47	chr11:120207979-120208029	ProgFib	skin:	n/a
48	chr11:120207786-120207836	AG04449	skin:	fetal
49	chr11:120207748-120207798	GM06990	blood:	n/a
50	chr11:120207939-120207989	PFSK-1	brain:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
2	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
3	chr11:120207370..120208927-chr11:120276135..120278811,2	K562	blood:
4	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
5	chr11:120112775..120115205-chr11:120208059..120211030,2	K562	blood:
6	chr11:120208182..120211778-chr11:120301083..120304985,6	K562	blood:
7	chr11:120204970..120207228-chr21:46755550..46757641,2	K562	blood:
8	chr11:120205411..120207219-chr11:120322379..120324809,2	MCF-7	breast:
9	chr11:120207958..120210253-chr11:120247180..120249390,2	K562	blood:
10	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:
11	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
12	chr11:120202465..120204611-chr11:120208153..120210823,2	K562	blood:
13	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:
14	chr11:120205169..120207270-chr11:120327184..120328728,2	K562	blood:
15	chr11:120206196..120207138-chr17:41465190..41465809,2	Hela-S3	cervix:
16	chr11:120201509..120203556-chr11:120205430..120206977,2	MCF-7	breast:
17	chr11:120187467..120189508-chr11:120207099..120208640,2	MCF-7	breast:
18	chr11:120208495..120210605-chr11:120212464..120216730,4	MCF-7	breast:
19	chr11:120105523..120107872-chr11:120205217..120207566,2	MCF-7	breast:
20	chr11:120208579..120210474-chr11:120288669..120290503,2	K562	blood:
21	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:

No data

Variant related genes	Relation type
ARHGEF12	TF binding region
ARHGEF12	CpG island
ENSG00000229382	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000137709	chromatin interactions
ENSG00000196914	chromatin interactions
ENSG00000181264	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575846521	chr11:120205812-120205813	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs148860147	chr11:120205815-120205816	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs555566894	chr11:120205855-120205856	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs73008718	chr11:120205856-120205857	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs369566031	chr11:120205861-120205862	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs541289258	chr11:120205863-120205864	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs547830543	chr11:120205906-120205907	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs567807214	chr11:120205912-120205913	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs559410884	chr11:120205919-120205920	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs183641040	chr11:120206004-120206005	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs188005342	chr11:120206073-120206074	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs3809059	chr11:120206163-120206164	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181260133	chr11:120206170-120206171	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs184087156	chr11:120206171-120206172	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs567812151	chr11:120206197-120206198	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs189813875	chr11:120206238-120206239	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs547223045	chr11:120206239-120206240	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs571977513	chr11:120206241-120206242	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs532082999	chr11:120206306-120206307	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs181914369	chr11:120206310-120206311	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs142552867	chr11:120206326-120206327	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs569354469	chr11:120206390-120206391	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs536787697	chr11:120206426-120206427	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs374950675	chr11:120206500-120206501	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs3809058	chr11:120206506-120206507	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573755621	chr11:120206520-120206521	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs534523382	chr11:120206559-120206560	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs553194235	chr11:120206612-120206613	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs577558653	chr11:120206613-120206614	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs544581697	chr11:120206614-120206615	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs3840762	chr11:120206636-120206637	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs35734851	chr11:120206746-120206747	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574907048	chr11:120206779-120206780	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs572609886	chr11:120206804-120206805	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs542676676	chr11:120206834-120206835	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs112988175	chr11:120206860-120206861	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs550706828	chr11:120206896-120206897	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs546918404	chr11:120206902-120206903	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs565572856	chr11:120206907-120206908	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs550314117	chr11:120206957-120206958	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs532885157	chr11:120206975-120206976	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs550978764	chr11:120206992-120206993	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs569242063	chr11:120207003-120207004	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs536272082	chr11:120207066-120207067	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs548619432	chr11:120207173-120207174	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs566863492	chr11:120207212-120207213	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs372910334	chr11:120207254-120207255	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs534809905	chr11:120207318-120207319	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs539899038	chr11:120207366-120207367	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs552797576	chr11:120207383-120207384	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164919	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120196400-120206400	Weak transcription	Gastric	stomach
2	chr11:120196800-120205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120196800-120205800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120196800-120206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120197200-120205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120197200-120205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120197600-120205800	Weak transcription	Liver	Liver
8	chr11:120198400-120205800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:120198400-120206400	Weak transcription	Lung	lung
10	chr11:120198400-120206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:120199600-120205800	Weak transcription	Right Atrium	heart
12	chr11:120201200-120205800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:120201200-120206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:120201200-120206400	Weak transcription	Spleen	Spleen
15	chr11:120201400-120205800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120201400-120205800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:120201800-120205800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:120202000-120205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:120202200-120205800	Weak transcription	Left Ventricle	heart
20	chr11:120202400-120205800	Weak transcription	Aorta	Aorta
21	chr11:120202400-120205800	Weak transcription	Ovary	ovary
22	chr11:120202400-120205800	Weak transcription	Pancreas	Pancrea
23	chr11:120202400-120205800	Weak transcription	Right Ventricle	heart
24	chr11:120202600-120205800	Enhancers	Fetal Heart	heart
25	chr11:120202600-120205800	Weak transcription	Fetal Intestine Small	intestine
26	chr11:120202600-120205800	Weak transcription	Placenta	Placenta
27	chr11:120202600-120205800	Weak transcription	Psoas Muscle	Psoas
28	chr11:120202800-120205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:120202800-120205800	Weak transcription	Stomach Mucosa	stomach
30	chr11:120203000-120205800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120203600-120206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:120203600-120206400	Weak transcription	Esophagus	oesophagus
33	chr11:120204000-120205800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:120204800-120205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:120204800-120205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:120205000-120205800	Enhancers	HSMM	muscle
37	chr11:120205000-120205800	Enhancers	NHLF	lung
38	chr11:120205200-120205800	Weak transcription	GM12878-XiMat	blood
39	chr11:120205200-120206400	Weak transcription	Small Intestine	intestine
40	chr11:120205400-120205800	Weak transcription	Brain Substantia Nigra	brain
41	chr11:120205400-120205800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:120205400-120206000	Active TSS	Fetal Lung	lung
43	chr11:120205600-120205800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:120205600-120205800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:120205600-120205800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120205600-120205800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:120205600-120205800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:120205600-120205800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:120205600-120205800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr11:120205600-120205800	Active TSS	HUES64 Cell Line	embryonic stem cell

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