Variant report

Variant	esv3332492
Chromosome Location	chr11:66233476-66235774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:610)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:66234300-66234363	HepG2	liver:	n/a	n/a
2	ATF2	chr11:66233286-66233630	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:66234314-66234513	K562	blood:	n/a	n/a
4	BACH1	chr11:66233920-66234843	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr11:66233924-66234417	GM12878	blood:	n/a	chr11:66234401-66234417
6	BHLHE40	chr11:66234363-66234769	K562	blood:	n/a	chr11:66234401-66234417
7	BHLHE40	chr11:66233914-66234042	K562	blood:	n/a	n/a
8	BHLHE40	chr11:66234658-66235037	GM12878	blood:	n/a	n/a
9	BRCA1	chr11:66234145-66234389	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr11:66233987-66234984	K562	blood:	n/a	chr11:66234084-66234093 chr11:66234292-66234301 chr11:66234356-66234365
11	CEBPD	chr11:66233986-66234292	HepG2	liver:	n/a	n/a
12	CHD1	chr11:66234554-66235158	IMR90	lung:	n/a	n/a
13	CHD1	chr11:66234068-66234228	GM12878	blood:	n/a	n/a
14	CHD2	chr11:66233991-66234667	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr11:66233866-66234455	GM12878	blood:	n/a	n/a
16	CHD2	chr11:66233955-66233963	HepG2	liver:	n/a	n/a
17	CHD2	chr11:66233831-66234365	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr11:66233999-66234951	K562	blood:	n/a	n/a
19	CREB1	chr11:66233990-66234815	A549	lung:	n/a	n/a
20	CREB1	chr11:66233596-66234830	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr11:66233897-66234600	GM12878	blood:	n/a	n/a
22	CREB1	chr11:66233688-66235152	HepG2	liver:	n/a	n/a
23	CTCF	chr11:66234920-66235070	GM12864	blood:	n/a	n/a
24	CTCF	chr11:66234570-66234971	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:66234780-66234930	K562	blood:	n/a	n/a
26	CTCF	chr11:66234720-66234870	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:66234640-66234790	A549	lung:	n/a	n/a
28	CTCF	chr11:66234718-66234846	HepG2	liver:	n/a	n/a
29	CTCF	chr11:66234720-66234870	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr11:66235000-66235150	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr11:66234680-66234830	GM12866	blood:	n/a	n/a
32	CTCF	chr11:66234700-66234850	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr11:66234960-66235110	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr11:66234604-66234926	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:66234740-66234890	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr11:66234140-66234290	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr11:66234701-66234917	K562	blood:	n/a	n/a
38	CTCF	chr11:66234854-66234857	GM10248	blood:	n/a	n/a
39	CTCF	chr11:66234760-66234910	GM12874	blood:	n/a	n/a
40	CTCF	chr11:66234820-66234970	WI-38	lung:	n/a	n/a
41	CTCF	chr11:66234700-66234850	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr11:66234720-66234870	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr11:66234680-66234830	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:66234700-66234850	HVMF	connective:	n/a	n/a
45	CTCF	chr11:66234700-66234850	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:66234705-66234855	LNCaP	prostate:	n/a	n/a
47	CTCF	chr11:66234620-66234770	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr11:66234700-66234850	HepG2	liver:	n/a	n/a
49	CTCF	chr11:66234706-66234935	GM12878	blood:	n/a	n/a
50	CTCF	chr11:66234727-66234820	GM13977	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66234251-66234301	HUVEC	blood vessel:	n/a
2	chr11:66233952-66234002	NHBE	bronchial:	n/a
3	chr11:66234280-66234330	GM12891	blood:	n/a
4	chr11:66233952-66234002	HNPCEpiC	eye:	n/a
5	chr11:66234280-66234330	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:66234348-66234398	HRPEpiC	eye:	n/a
7	chr11:66234251-66234301	PrEC	prostate:	n/a
8	chr11:66234186-66234236	SAEC	small airway:	n/a
9	chr11:66234348-66234398	GM12892	blood:	n/a
10	chr11:66234018-66234068	SK-N-SH_RA	brain:	n/a
11	chr11:66234186-66234236	RPTEC	kidney:	n/a
12	chr11:66234280-66234330	RPTEC	kidney:	n/a
13	chr11:66234348-66234398	HMEC	breast:	n/a
14	chr11:66233952-66234002	RPTEC	kidney:	n/a
15	chr11:66235081-66235131	HEK293	kidney:	embryo
16	chr11:66234874-66234924	PFSK-1	brain:	n/a
17	chr11:66234874-66234924	ECC-1	luminal epithelium:	n/a
18	chr11:66234297-66234347	MCF-7	breast:	n/a
19	chr11:66234348-66234398	HCF	heart:	n/a
20	chr11:66234280-66234330	GM12892	blood:	n/a
21	chr11:66234251-66234301	MCF-7	breast:	n/a
22	chr11:66234251-66234301	GM12878	blood:	n/a
23	chr11:66235081-66235131	GM12891	blood:	n/a
24	chr11:66234251-66234301	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:66234297-66234347	AG09309	skin:	n/a
26	chr11:66234251-66234301	GM06990	blood:	n/a
27	chr11:66234297-66234347	GM12891	blood:	n/a
28	chr11:66234280-66234330	ProgFib	skin:	n/a
29	chr11:66234874-66234924	AoSMC	blood vessel:	n/a
30	chr11:66234018-66234068	BE2_C	brain:	n/a
31	chr11:66233952-66234002	GM06990	blood:	n/a
32	chr11:66234186-66234236	Hepatocyte	liver:	n/a
33	chr11:66234280-66234330	K562	blood:	n/a
34	chr11:66234186-66234236	BE2_C	brain:	n/a
35	chr11:66234280-66234330	HL-60	blood:	n/a
36	chr11:66234186-66234236	HMEC	breast:	n/a
37	chr11:66234348-66234398	AG10803	skin:	n/a
38	chr11:66234251-66234301	K562	blood:	n/a
39	chr11:66233952-66234002	HRCEpiC	kidney:	n/a
40	chr11:66234186-66234236	NT2-D1	testis:	n/a
41	chr11:66233952-66234002	GM12878	blood:	n/a
42	chr11:66234874-66234924	NH-A	brain:	n/a
43	chr11:66234186-66234236	HEK293	kidney:	embryo
44	chr11:66234874-66234924	NT2-D1	testis:	n/a
45	chr11:66233905-66233955	HEK293	kidney:	embryo
46	chr11:66234297-66234347	SKMC	muscle:	n/a
47	chr11:66234018-66234068	HRE	kidney:	n/a
48	chr11:66234297-66234347	SK-N-MC	brain:	n/a
49	chr11:66235081-66235131	A549	lung:	n/a
50	chr11:66234251-66234301	HRPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66139196..66140787-chr11:66233339..66235193,2	MCF-7	breast:
2	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
3	chr11:66233892..66235640-chr11:66313416..66314952,2	K562	blood:
4	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
5	chr11:66234759..66237082-chr11:66443933..66445576,2	MCF-7	breast:
6	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
7	chr11:66233713..66235864-chr11:66383889..66386308,2	MCF-7	breast:
8	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
9	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
10	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:
11	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
12	chr11:66204408..66207592-chr11:66232898..66234568,4	MCF-7	breast:
13	chr11:66190055..66192720-chr11:66235255..66236874,2	K562	blood:
14	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
15	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
16	chr11:66234037..66235984-chr11:66277120..66279562,2	MCF-7	breast:
17	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:

No data

Variant related genes	Relation type
MRPL11	TF binding region
PELI3	TF binding region
MRPL11	CpG island
PELI3	CpG island
ENSG00000173653	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000174483	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000174547	chromatin interactions
ENSG00000255468	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000174165	chromatin interactions
ENSG00000174684	chromatin interactions
ENSG00000174576	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000248746	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79331444	chr11:66233501-66233502	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs181596883	chr11:66233637-66233638	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs553704782	chr11:66233648-66233649	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs573587838	chr11:66233692-66233693	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs542621791	chr11:66233697-66233698	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs562339714	chr11:66233725-66233726	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs576011743	chr11:66233753-66233754	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs544776451	chr11:66233755-66233756	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs186369646	chr11:66233821-66233822	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs111797112	chr11:66233874-66233875	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs533464121	chr11:66233894-66233895	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs546808235	chr11:66233922-66233923	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs190882430	chr11:66233931-66233932	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs529240371	chr11:66233937-66233938	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs7925093	chr11:66233944-66233945	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs531537282	chr11:66233950-66233951	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs551155796	chr11:66233996-66233997	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs55955243	chr11:66234002-66234003	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7925108	chr11:66234023-66234024	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370959024	chr11:66234093-66234094	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs182642387	chr11:66234102-66234103	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs374387987	chr11:66234106-66234107	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs536945853	chr11:66234175-66234176	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs186356203	chr11:66234176-66234177	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs556204487	chr11:66234243-66234244	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs575999665	chr11:66234417-66234418	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs544968300	chr11:66234468-66234469	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs7928882	chr11:66234765-66234766	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs578135973	chr11:66234777-66234778	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs540839283	chr11:66234921-66234922	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs560358321	chr11:66234972-66234973	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs529394849	chr11:66234973-66234974	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs191135194	chr11:66234994-66234995	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs530334318	chr11:66235036-66235037	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs182969796	chr11:66235075-66235076	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs187647459	chr11:66235107-66235108	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs143452280	chr11:66235237-66235238	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs75685325	chr11:66235242-66235243	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs551305444	chr11:66235309-66235310	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs137920172	chr11:66235341-66235342	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs140910248	chr11:66235409-66235410	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs145088632	chr11:66235435-66235436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs77781448	chr11:66235455-66235456	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs532456045	chr11:66235470-66235471	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs112321101	chr11:66235474-66235475	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs556173779	chr11:66235506-66235507	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs569714685	chr11:66235509-66235510	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs192691600	chr11:66235521-66235522	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs142538002	chr11:66235528-66235529	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs374054374	chr11:66235549-66235550	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66219800-66233800	Weak transcription	Aorta	Aorta
2	chr11:66227200-66233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:66232200-66233600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:66232400-66233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:66232400-66233600	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:66232400-66233600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:66232400-66233800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:66232400-66233800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:66232400-66234000	Enhancers	HSMMtube	muscle
10	chr11:66232600-66233600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:66232600-66233600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:66232600-66233600	Enhancers	Fetal Heart	heart
13	chr11:66232600-66233600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:66232800-66233600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:66232800-66233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:66232800-66233600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:66232800-66233600	Enhancers	Colon Smooth Muscle	Colon
18	chr11:66232800-66233600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:66232800-66233800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:66233000-66233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:66233000-66233600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:66233000-66233600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:66233000-66233800	Enhancers	Spleen	Spleen
24	chr11:66233000-66234000	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:66233000-66235000	Enhancers	Fetal Brain Male	brain
26	chr11:66233200-66233600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:66233200-66233600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr11:66233200-66233600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:66233200-66233600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:66233200-66233600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:66233200-66233600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:66233200-66233600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:66233200-66233600	Weak transcription	Brain Germinal Matrix	brain
34	chr11:66233200-66233600	Enhancers	Brain Substantia Nigra	brain
35	chr11:66233200-66233600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:66233200-66233600	Enhancers	Fetal Stomach	stomach
37	chr11:66233200-66233800	Weak transcription	Right Ventricle	heart
38	chr11:66233200-66234000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:66233200-66234800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66233200-66235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr11:66233200-66235000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:66233200-66235200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:66233200-66235200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:66233400-66233600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:66233400-66233600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:66233400-66233600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:66233400-66233600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:66233400-66233600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:66233400-66233600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:66233400-66233600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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