Variant report

Variant	esv3330950
Chromosome Location	chr11:9594801-9597349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:860)
CpG islands
(count:856)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:9595033-9595208	K562	blood:	n/a	chr11:9595088-9595096
2	ARID3A	chr11:9594894-9595405	HepG2	liver:	n/a	chr11:9595088-9595096
3	ARID3A	chr11:9596824-9597140	HepG2	liver:	n/a	n/a
4	ATF1	chr11:9594578-9595287	K562	blood:	n/a	n/a
5	ATF2	chr11:9594934-9595294	GM12878	blood:	n/a	n/a
6	ATF2	chr11:9596406-9597475	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:9594846-9595323	GM12878	blood:	n/a	n/a
8	ATF2	chr11:9594648-9595190	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr11:9595041-9595460	K562	blood:	n/a	n/a
10	ATF3	chr11:9594935-9595363	K562	blood:	n/a	n/a
11	ATF3	chr11:9595078-9595469	HepG2	liver:	n/a	n/a
12	BCL3	chr11:9594145-9595350	A549	lung:	n/a	chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847
13	BCL3	chr11:9594183-9594829	A549	lung:	n/a	n/a
14	BCL3	chr11:9596374-9597175	A549	lung:	n/a	chr11:9596468-9596481
15	BCLAF1	chr11:9594757-9595642	K562	blood:	n/a	chr11:9595432-9595445 chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847 chr11:9595345-9595354 chr11:9595343-9595356
16	BCLAF1	chr11:9594758-9595730	GM12878	blood:	n/a	chr11:9595432-9595445 chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847 chr11:9595345-9595354 chr11:9595343-9595356
17	BCLAF1	chr11:9596741-9597460	GM12878	blood:	n/a	n/a
18	BHLHE40	chr11:9596321-9596648	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:9594264-9595587	GM12878	blood:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
20	BHLHE40	chr11:9594254-9595614	K562	blood:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
21	BHLHE40	chr11:9594155-9595523	HepG2	liver:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
22	BHLHE40	chr11:9594235-9594866	A549	lung:	n/a	n/a
23	BHLHE40	chr11:9596622-9597045	K562	blood:	n/a	n/a
24	BRCA1	chr11:9594870-9595198	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr11:9596310-9596335	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:9594437-9595319	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr11:9594470-9595134	HepG2	liver:	n/a	n/a
28	BRCA1	chr11:9596629-9597318	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:9594775-9594900	GM12878	blood:	n/a	n/a
30	CBX3	chr11:9596590-9597180	K562	blood:	n/a	n/a
31	CBX3	chr11:9594225-9595378	K562	blood:	n/a	n/a
32	CCNT2	chr11:9594469-9596913	K562	blood:	n/a	n/a
33	CEBPB	chr11:9596141-9596395	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:9596812-9597185	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:9596877-9597129	K562	blood:	n/a	n/a
36	CEBPB	chr11:9596866-9597136	HepG2	liver:	n/a	n/a
37	CEBPB	chr11:9594584-9595274	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr11:9594352-9594865	HepG2	liver:	n/a	n/a
39	CEBPB	chr11:9596665-9597137	K562	blood:	n/a	n/a
40	CEBPD	chr11:9594688-9595164	HepG2	liver:	n/a	n/a
41	CEBPD	chr11:9596087-9597237	K562	blood:	n/a	n/a
42	CEBPD	chr11:9596425-9597278	K562	blood:	n/a	n/a
43	CEBPD	chr11:9594362-9595465	HepG2	liver:	n/a	n/a
44	CHD1	chr11:9594775-9594883	GM12878	blood:	n/a	n/a
45	CHD1	chr11:9595166-9595703	GM12878	blood:	n/a	n/a
46	CHD1	chr11:9595986-9596530	GM12878	blood:	n/a	chr11:9596149-9596159
47	CHD1	chr11:9596784-9597508	GM12878	blood:	n/a	n/a
48	CHD1	chr11:9594023-9600398	IMR90	lung:	n/a	chr11:9596149-9596159
49	CHD1	chr11:9595243-9597964	H1-hESC	embryonic stem cell:	n/a	chr11:9596149-9596159
50	CHD2	chr11:9594513-9595298	GM12878	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9595191-9595241	GM06990	blood:	n/a
2	chr11:9596283-9596333	HMEC	breast:	n/a
3	chr11:9595191-9595241	GM06990	blood:	n/a
4	chr11:9596283-9596333	HMEC	breast:	n/a
5	chr11:9595200-9595250	HRCEpiC	kidney:	n/a
6	chr11:9596161-9596211	NHDF-neo	bronchial:	n/a
7	chr11:9595214-9595264	GM19239	blood:	n/a
8	chr11:9595200-9595250	HCT-116	colon:	n/a
9	chr11:9595206-9595256	NT2-D1	testis:	n/a
10	chr11:9596283-9596333	AoSMC	blood vessel:	n/a
11	chr11:9595191-9595241	HRE	kidney:	n/a
12	chr11:9595204-9595254	HNPCEpiC	eye:	n/a
13	chr11:9596475-9596525	GM12878	blood:	n/a
14	chr11:9595206-9595256	ProgFib	skin:	n/a
15	chr11:9596475-9596525	ovcar-3	ovarian:	n/a
16	chr11:9595265-9595315	GM12892	blood:	n/a
17	chr11:9595544-9595594	SK-N-SH	brain:	n/a
18	chr11:9596174-9596224	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:9595216-9595266	T-47D	breast:	n/a
20	chr11:9595216-9595266	RPTEC	kidney:	n/a
21	chr11:9596161-9596211	SKMC	muscle:	n/a
22	chr11:9595214-9595264	SK-N-MC	brain:	n/a
23	chr11:9596174-9596224	AG09319	gingival:	n/a
24	chr11:9595265-9595315	PrEC	prostate:	n/a
25	chr11:9595200-9595250	NH-A	brain:	n/a
26	chr11:9595265-9595315	AG04449	skin:	fetal
27	chr11:9596161-9596211	HCT-116	colon:	n/a
28	chr11:9595200-9595250	AG04450	lung:	fetal
29	chr11:9596214-9596264	NB4	blood:	n/a
30	chr11:9595544-9595594	PFSK-1	brain:	n/a
31	chr11:9596174-9596224	MCF10A-Er-Src	breast:	n/a
32	chr11:9595206-9595256	HIPEpiC	eye:	n/a
33	chr11:9596174-9596224	HCT-116	colon:	n/a
34	chr11:9595204-9595254	SAEC	small airway:	n/a
35	chr11:9595544-9595594	GM12892	blood:	n/a
36	chr11:9595204-9595254	GM19239	blood:	n/a
37	chr11:9595544-9595594	HEEpiC	esophagus:	n/a
38	chr11:9596283-9596333	NT2-D1	testis:	n/a
39	chr11:9596214-9596264	SKMC	muscle:	n/a
40	chr11:9595204-9595254	ProgFib	skin:	n/a
41	chr11:9596161-9596211	Hela-S3	cervix:	n/a
42	chr11:9595204-9595254	AG09319	gingival:	n/a
43	chr11:9595206-9595256	AG09319	gingival:	n/a
44	chr11:9595214-9595264	A549	lung:	n/a
45	chr11:9596224-9596274	A549	lung:	n/a
46	chr11:9595265-9595315	HEEpiC	esophagus:	n/a
47	chr11:9596224-9596274	H1-hESC	embryonic stem cell:	embryo
48	chr11:9595265-9595315	NT2-D1	testis:	n/a
49	chr11:9595216-9595266	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:9595544-9595594	ProgFib	skin:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:
2	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
3	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
4	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
5	chr11:9335962..9338074-chr11:9596330..9598082,2	K562	blood:
6	chr11:9482166..9483015-chr11:9594207..9594915,2	Hela-S3	cervix:
7	chr11:9594464..9595108-chr22:30591798..30592673,2	Hela-S3	cervix:
8	chr11:9594577..9595173-chr3:114865177..114865799,2	Hela-S3	cervix:
9	chr11:9594508..9596451-chr11:10325420..10327263,2	MCF-7	breast:
10	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
11	chr11:9594432..9594977-chr20:30194249..30195144,2	Hela-S3	cervix:
12	chr11:9482310..9483015-chr11:9594999..9595996,2	Hela-S3	cervix:
13	chr11:9594404..9594909-chr19:56632177..56632899,2	Hela-S3	cervix:
14	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
15	chr1:234744714..234746851-chr11:9594601..9596102,2	MCF-7	breast:
16	chr11:9597228..9597948-chr7:915879..916543,2	Hela-S3	cervix:
17	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
18	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
19	chr11:9595265..9597236-chr11:9601549..9603655,2	MCF-7	breast:
20	chr11:9595182..9595691-chr17:79008469..79009229,2	HCT-116	colon:
21	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
22	chr11:9594272..9594821-chr17:25621066..25621930,2	Hela-S3	cervix:
23	chr11:9596850..9599628-chr11:10329310..10331865,2	MCF-7	breast:
24	chr11:9594918..9595451-chr3:156878182..156878802,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000238387	TF binding region
WEE1	TF binding region
ENSG00000238387	CpG island
WEE1	CpG island
ENSG00000166441	chromatin interactions
ENSG00000148926	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000175356	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000239857	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000243964	chromatin interactions
ENSG00000168264	chromatin interactions
ENSG00000133805	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000245522	chromatin interactions
ENSG00000243869	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000142409	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552973626	chr11:9594806-9594807	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs117983754	chr11:9594813-9594814	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs3763869	chr11:9594827-9594828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs555653563	chr11:9594885-9594886	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs3763868	chr11:9594888-9594889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs148329686	chr11:9594908-9594909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs375465802	chr11:9594937-9594938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs113226349	chr11:9594949-9594950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs192263430	chr11:9594962-9594963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs374230135	chr11:9594963-9594964	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs543704589	chr11:9594996-9594997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs560584062	chr11:9594997-9594998	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs569621776	chr11:9595044-9595045	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs113763762	chr11:9595080-9595081	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs543009043	chr11:9595082-9595083	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs112950602	chr11:9595096-9595097	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs561984277	chr11:9595102-9595103	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs530804353	chr11:9595119-9595120	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs373686213	chr11:9595130-9595131	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs113365942	chr11:9595141-9595142	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs550786650	chr11:9595415-9595416	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs570544453	chr11:9595420-9595421	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs533096399	chr11:9595453-9595454	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs559424181	chr11:9595605-9595606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs546383175	chr11:9595624-9595625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs566524452	chr11:9595636-9595637	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs12805035	chr11:9595641-9595642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs535098637	chr11:9595660-9595661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs548544132	chr11:9595672-9595673	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs370387004	chr11:9595722-9595723	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs11042428	chr11:9595732-9595733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs558374573	chr11:9595744-9595745	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs578111142	chr11:9595749-9595750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs117347074	chr11:9595768-9595769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs201792218	chr11:9595772-9595773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs574152454	chr11:9595837-9595838	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs543072187	chr11:9595873-9595874	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs562855683	chr11:9595956-9595957	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs575651109	chr11:9595957-9595958	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs544177586	chr11:9596026-9596027	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs543556520	chr11:9596071-9596072	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs564359337	chr11:9596178-9596179	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs372919704	chr11:9596183-9596184	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs532993393	chr11:9596210-9596211	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs546741029	chr11:9596274-9596275	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs559839538	chr11:9596301-9596302	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs113424788	chr11:9596319-9596320	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs16906871	chr11:9596329-9596330	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs548606620	chr11:9596427-9596428	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs568506471	chr11:9596477-9596478	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
2	chr11:9593600-9595800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:9593600-9596200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:9593600-9596600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:9593600-9598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:9593800-9596400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9593800-9596400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:9593800-9596400	Active TSS	HepG2	liver
9	chr11:9593800-9596400	Active TSS	Osteobl	bone
10	chr11:9593800-9596600	Active TSS	Brain Hippocampus Middle	brain
11	chr11:9593800-9597200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:9593800-9597400	Active TSS	A549	lung
13	chr11:9593800-9597800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:9593800-9598200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:9593800-9599000	Active TSS	Psoas Muscle	Psoas
16	chr11:9593800-9599600	Active TSS	Brain Germinal Matrix	brain
17	chr11:9593800-9599800	Active TSS	HSMMtube	muscle
18	chr11:9594000-9595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:9594000-9595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:9594000-9596200	Active TSS	Adipose Nuclei	Adipose
21	chr11:9594000-9596400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:9594000-9596400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:9594000-9596400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:9594000-9597200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:9594000-9597200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:9594000-9597800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:9594000-9597800	Active TSS	Duodenum Mucosa	Duodenum
28	chr11:9594000-9598000	Active TSS	NHEK	skin
29	chr11:9594000-9598200	Active TSS	HSMM	muscle
30	chr11:9594000-9598600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:9594000-9598800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:9594000-9599400	Active TSS	Fetal Brain Female	brain
33	chr11:9594200-9595000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:9594200-9595400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:9594200-9596400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:9594200-9596400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:9594200-9596400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:9594200-9596600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:9594200-9596600	Active TSS	Brain Angular Gyrus	brain
40	chr11:9594200-9596600	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:9594200-9596600	Active TSS	Brain Substantia Nigra	brain
42	chr11:9594200-9596600	Active TSS	Fetal Lung	lung
43	chr11:9594200-9596600	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:9594200-9597000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9594200-9597200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:9594200-9597600	Active TSS	Brain Anterior Caudate	brain
47	chr11:9594200-9597600	Active TSS	Colonic Mucosa	Colon
48	chr11:9594200-9597800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:9594200-9598000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:9594200-9598000	Active TSS	Rectal Mucosa Donor 29	rectum

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