Variant report

Variant	nsv554000
Chromosome Location	chr11:34643780-34780936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2479)
CpG islands
(count:610)
Chromatin interactive
region (count:98)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2479 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:34655611-34656115	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:34748846-34749059	K562	blood:	n/a	n/a
3	ARID3A	chr11:34661875-34662144	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:34667925-34667948	K562	blood:	n/a	n/a
5	ARID3A	chr11:34673150-34674076	K562	blood:	n/a	n/a
6	ARID3A	chr11:34689665-34690249	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:34706908-34707346	K562	blood:	n/a	n/a
8	ARID3A	chr11:34675333-34678461	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:34707057-34707061	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:34686478-34687268	HepG2	liver:	n/a	n/a
11	ARID3A	chr11:34664524-34664676	K562	blood:	n/a	n/a
12	ATF1	chr11:34673739-34674051	K562	blood:	n/a	n/a
13	ATF1	chr11:34748782-34749093	K562	blood:	n/a	n/a
14	ATF1	chr11:34706870-34707207	K562	blood:	n/a	n/a
15	ATF1	chr11:34779809-34780240	K562	blood:	n/a	n/a
16	ATF1	chr11:34687084-34687254	K562	blood:	n/a	n/a
17	ATF1	chr11:34675550-34675863	K562	blood:	n/a	n/a
18	ATF2	chr11:34706715-34707242	GM12878	blood:	n/a	n/a
19	ATF2	chr11:34673623-34674581	GM12878	blood:	n/a	n/a
20	ATF2	chr11:34671884-34672577	GM12878	blood:	n/a	n/a
21	ATF2	chr11:34671847-34672599	GM12878	blood:	n/a	n/a
22	ATF2	chr11:34655408-34656051	GM12878	blood:	n/a	n/a
23	ATF2	chr11:34706739-34707148	GM12878	blood:	n/a	n/a
24	ATF2	chr11:34644852-34645273	GM12878	blood:	n/a	n/a
25	ATF3	chr11:34676387-34677171	A549	lung:	n/a	n/a
26	ATF3	chr11:34706711-34707373	A549	lung:	n/a	n/a
27	ATF3	chr11:34675408-34676126	A549	lung:	n/a	n/a
28	ATF3	chr11:34675433-34676137	A549	lung:	n/a	n/a
29	ATF3	chr11:34706685-34707409	A549	lung:	n/a	n/a
30	ATF3	chr11:34706580-34707376	HCT-116	colon:	n/a	n/a
31	ATF3	chr11:34661411-34662279	A549	lung:	n/a	n/a
32	ATF3	chr11:34706702-34707206	K562	blood:	n/a	n/a
33	ATF3	chr11:34673654-34674049	K562	blood:	n/a	n/a
34	ATF3	chr11:34676265-34676876	A549	lung:	n/a	n/a
35	ATF3	chr11:34661628-34662235	A549	lung:	n/a	n/a
36	ATF3	chr11:34706701-34707439	HCT-116	colon:	n/a	n/a
37	BACH1	chr11:34706823-34707127	H1-hESC	embryonic stem cell:	n/a	chr11:34706944-34706958
38	BACH1	chr11:34706943-34706985	K562	blood:	n/a	chr11:34706944-34706958
39	BATF	chr11:34655400-34656160	GM12878	blood:	n/a	n/a
40	BATF	chr11:34647977-34648245	GM12878	blood:	n/a	n/a
41	BATF	chr11:34655552-34655984	GM12878	blood:	n/a	n/a
42	BATF	chr11:34645527-34645908	GM12878	blood:	n/a	n/a
43	BATF	chr11:34673744-34674060	GM12878	blood:	n/a	n/a
44	BATF	chr11:34672024-34672548	GM12878	blood:	n/a	n/a
45	BATF	chr11:34706746-34707114	GM12878	blood:	n/a	chr11:34706944-34706954 chr11:34706943-34706954
46	BATF	chr11:34672082-34672559	GM12878	blood:	n/a	n/a
47	BATF	chr11:34644902-34645267	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:34671993-34672559	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:34706738-34707099	GM12878	blood:	n/a	chr11:34706947-34706956 chr11:34706946-34706955
50	BCL11A	chr11:34655659-34656004	GM12878	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	chr11:34654233-34654283	SK-N-MC	brain:	n/a
2	chr11:34701819-34701869	HIPEpiC	eye:	n/a
3	chr11:34675402-34675452	HL-60	blood:	n/a
4	chr11:34702946-34702996	AG10803	skin:	n/a
5	chr11:34672025-34672075	HIPEpiC	eye:	n/a
6	chr11:34672025-34672075	AG04450	lung:	fetal
7	chr11:34654233-34654283	AG04450	lung:	fetal
8	chr11:34771918-34771968	SAEC	small airway:	n/a
9	chr11:34702946-34702996	HRPEpiC	eye:	n/a
10	chr11:34701819-34701869	HCM	heart:	n/a
11	chr11:34681375-34681425	AG09319	gingival:	n/a
12	chr11:34675402-34675452	Hela-S3	cervix:	n/a
13	chr11:34666060-34666110	GM19239	blood:	n/a
14	chr11:34675402-34675452	ProgFib	skin:	n/a
15	chr11:34681375-34681425	CMK	blood:	n/a
16	chr11:34702946-34702996	Jurkat	blood:	n/a
17	chr11:34702946-34702996	HMEC	breast:	n/a
18	chr11:34676683-34676733	AG04449	skin:	fetal
19	chr11:34672025-34672075	PFSK-1	brain:	n/a
20	chr11:34654233-34654283	AG09319	gingival:	n/a
21	chr11:34675402-34675452	K562	blood:	n/a
22	chr11:34672025-34672075	HEK293	kidney:	embryo
23	chr11:34672025-34672075	PANC-1	pancreas:	n/a
24	chr11:34771918-34771968	MCF10A-Er-Src	breast:	n/a
25	chr11:34676683-34676733	SK-N-SH_RA	brain:	n/a
26	chr11:34675402-34675452	NH-A	brain:	n/a
27	chr11:34675402-34675452	CMK	blood:	n/a
28	chr11:34672025-34672075	U87	brain:	n/a
29	chr11:34771918-34771968	SK-N-SH	brain:	n/a
30	chr11:34654233-34654283	A549	lung:	n/a
31	chr11:34702946-34702996	H1-hESC	embryonic stem cell:	embryo
32	chr11:34666060-34666110	CMK	blood:	n/a
33	chr11:34701819-34701869	HUVEC	blood vessel:	n/a
34	chr11:34681375-34681425	HCT-116	colon:	n/a
35	chr11:34676683-34676733	HEEpiC	esophagus:	n/a
36	chr11:34666060-34666110	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:34771918-34771968	NH-A	brain:	n/a
38	chr11:34672025-34672075	HRE	kidney:	n/a
39	chr11:34672025-34672075	GM12892	blood:	n/a
40	chr11:34681375-34681425	HAEpiC	amniotic membrane:	n/a
41	chr11:34701819-34701869	CMK	blood:	n/a
42	chr11:34654233-34654283	ECC-1	luminal epithelium:	n/a
43	chr11:34675402-34675452	Caco-2	colon:	n/a
44	chr11:34666060-34666110	HCF	heart:	n/a
45	chr11:34675402-34675452	HCF	heart:	n/a
46	chr11:34666060-34666110	HL-60	blood:	n/a
47	chr11:34771918-34771968	NHDF-neo	bronchial:	n/a
48	chr11:34771918-34771968	Jurkat	blood:	n/a
49	chr11:34771918-34771968	HCF	heart:	n/a
50	chr11:34666060-34666110	NT2-D1	testis:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:34673700..34675383-chr11:34678871..34681043,2	K562	blood:
2	chr11:34685399..34688268-chr11:34690502..34692704,2	MCF-7	breast:
3	chr11:34679021..34681559-chr11:34682485..34684482,3	K562	blood:
4	chr11:34671534..34674106-chr11:34677263..34680105,2	K562	blood:
5	chr11:34670807..34672858-chr11:34677571..34680304,2	K562	blood:
6	chr11:34646456..34649204-chr11:34658693..34661498,2	K562	blood:
7	chr11:34673845..34676364-chr11:34936249..34938409,2	MCF-7	breast:
8	chr11:34686698..34687242-chr11:34844773..34845279,2	MCF-7	breast:
9	chr11:34631321..34633307-chr11:34669575..34672100,2	K562	blood:
10	chr11:34687615..34690287-chr11:34693156..34695409,2	MCF-7	breast:
11	chr11:34673700..34675383-chr11:34678871..34681043,2	K562	blood:
12	chr11:34625710..34627655-chr11:34689345..34691054,2	MCF-7	breast:
13	chr11:34656114..34658130-chr11:34661592..34663186,2	K562	blood:
14	chr11:34652609..34656733-chr11:34661493..34664204,6	MCF-7	breast:
15	chr11:34670807..34672858-chr11:34677571..34680304,2	K562	blood:
16	chr11:34673816..34675543-chr11:34675726..34677757,2	K562	blood:
17	chr11:34673816..34675543-chr11:34675726..34677757,2	K562	blood:
18	chr11:34623810..34626247-chr11:34658951..34660726,2	K562	blood:
19	chr11:34736912..34738637-chr11:34937479..34939117,2	MCF-7	breast:
20	chr11:34635183..34637039-chr11:34658826..34661301,2	MCF-7	breast:
21	chr11:34679249..34681279-chr11:34681584..34684087,2	K562	blood:
22	chr11:34676055..34678665-chr11:34685926..34687942,2	MCF-7	breast:
23	chr11:34777504..34779332-chr11:34816777..34819047,2	MCF-7	breast:
24	chr11:34568608..34571143-chr11:34742934..34745851,2	K562	blood:
25	chr11:34646456..34649204-chr11:34658693..34661498,2	K562	blood:
26	chr11:34683754..34686000-chr11:34698951..34701034,2	MCF-7	breast:
27	chr11:34641388..34644237-chr11:34660618..34663413,3	MCF-7	breast:
28	chr11:34643086..34644601-chr11:34653927..34655826,2	K562	blood:
29	chr11:34775760..34778139-chr11:34861633..34864027,2	K562	blood:
30	chr11:34625607..34627154-chr11:34665407..34666959,2	MCF-7	breast:
31	chr11:34569575..34572188-chr11:34654026..34656831,2	MCF-7	breast:
32	chr11:34666390..34669350-chr11:34705464..34707840,2	K562	blood:
33	chr11:34737373..34739523-chr11:34745601..34747414,2	K562	blood:
34	chr11:34667026..34669860-chr11:34670729..34674074,4	MCF-7	breast:
35	chr11:34642981..34644601-chr11:34653348..34655427,2	K562	blood:
36	chr11:34675426..34678725-chr11:34681137..34686486,6	MCF-7	breast:
37	chr11:34679249..34681279-chr11:34681584..34684087,2	K562	blood:
38	chr11:34667026..34669860-chr11:34670729..34674074,4	MCF-7	breast:
39	chr11:34640806..34644782-chr11:34660554..34663507,4	MCF-7	breast:
40	chr11:34607478..34608063-chr11:34675671..34676201,2	K562	blood:
41	chr11:34671248..34673590-chr11:34674140..34675712,2	MCF-7	breast:
42	chr11:34669421..34671173-chr11:34672153..34673980,2	MCF-7	breast:
43	chr11:34679939..34683842-chr11:34684452..34687073,3	MCF-7	breast:
44	chr11:34669421..34671173-chr11:34672153..34673980,2	MCF-7	breast:
45	chr11:34652609..34656733-chr11:34661493..34664204,6	MCF-7	breast:
46	chr11:34683754..34686000-chr11:34698951..34701034,2	MCF-7	breast:
47	chr11:34656114..34658130-chr11:34661592..34663186,2	K562	blood:
48	chr11:34652119..34655863-chr11:34659054..34663383,5	MCF-7	breast:
49	chr11:34683526..34685341-chr11:34687454..34689901,2	K562	blood:
50	chr11:34645573..34647366-chr11:34652042..34653637,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EHF-5	chr11:34764453-34764746	NONHSAT018763
2	lnc-ELF5-3	chr11:34736818-34736842	NONHSAT018762
3	lnc-ELF5-3	chr11:34736881-34736897	NONHSAT018762
4	lnc-EHF-4	chr11:34731147-34731708	NONHSAT018761
5	lnc-ELF5-3	chr11:34736767-34736787	NONHSAT018762
6	lnc-ELF5-3	chr11:34736903-34737435	NONHSAT018762

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EHF	hsa-miR-335-5p	chr11:34680781-34680805
2	EHF	hsa-miR-335-5p	chr11:34681304-34681326

Variant related genes	Relation type
ENSG00000270491	TF binding region
EHF	TF binding region
ENSG00000271369	TF binding region
ENSG00000270491	CpG island
EHF	CpG island
ENSG00000271369	CpG island
ENSG00000110435	chromatin interactions
ENSG00000135373	chromatin interactions
ENSG00000149089	chromatin interactions

Extended variants
information (count: 5069 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5069 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs286920	chr11:34643780-34643781	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542771970	chr11:34643789-34643790	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147874547	chr11:34643804-34643805	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183433458	chr11:34643903-34643904	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12789617	chr11:34643955-34643956	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563003683	chr11:34643977-34643978	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531737265	chr11:34643980-34643981	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545071351	chr11:34644024-34644025	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187588467	chr11:34644035-34644036	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192773216	chr11:34644057-34644058	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546418882	chr11:34644071-34644072	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566351290	chr11:34644073-34644074	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564558135	chr11:34644081-34644082	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531757639	chr11:34644104-34644105	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141594715	chr11:34644139-34644140	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185496653	chr11:34644161-34644162	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs286919	chr11:34644163-34644164	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16925908	chr11:34644183-34644184	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147902015	chr11:34644210-34644211	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537890919	chr11:34644230-34644231	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557775187	chr11:34644233-34644234	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548080541	chr11:34644254-34644255	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571398682	chr11:34644274-34644275	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533847959	chr11:34644300-34644301	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187782731	chr11:34644357-34644358	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192525764	chr11:34644382-34644383	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1466209	chr11:34644393-34644394	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556864940	chr11:34644399-34644400	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12224594	chr11:34644400-34644401	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12224573	chr11:34644454-34644455	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs443816	chr11:34644483-34644484	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77566387	chr11:34644485-34644486	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs443818	chr11:34644487-34644488	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576195123	chr11:34644519-34644520	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561005625	chr11:34644537-34644538	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148102818	chr11:34644615-34644616	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536789937	chr11:34644631-34644632	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201996338	chr11:34644645-34644646	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12224633	chr11:34644669-34644670	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141000339	chr11:34644676-34644677	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150238612	chr11:34644679-34644680	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551422527	chr11:34644718-34644719	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372519032	chr11:34644757-34644758	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571280782	chr11:34644781-34644782	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138978733	chr11:34644821-34644822	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs286918	chr11:34644830-34644831	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567248482	chr11:34644847-34644848	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368066512	chr11:34644876-34644877	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556465527	chr11:34644896-34644897	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192372731	chr11:34644917-34644918	Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1906 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34636200-34644000	Enhancers	K562	blood
2	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
4	chr11:34641800-34644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
6	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
9	chr11:34642400-34644400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:34642400-34644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:34642400-34645400	Active TSS	Colonic Mucosa	Colon
12	chr11:34642400-34645400	Active TSS	Duodenum Mucosa	Duodenum
13	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
15	chr11:34642600-34644000	Active TSS	Fetal Kidney	kidney
16	chr11:34642600-34644200	Active TSS	Fetal Stomach	stomach
17	chr11:34642600-34644200	Flanking Active TSS	HMEC	breast
18	chr11:34642800-34647000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:34642800-34647200	Active TSS	Gastric	stomach
20	chr11:34642800-34647200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:34643000-34644000	Enhancers	Brain Substantia Nigra	brain
22	chr11:34643000-34644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:34643000-34644200	Enhancers	Brain Anterior Caudate	brain
24	chr11:34643200-34644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:34643200-34644000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:34643200-34644000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr11:34643200-34644000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr11:34643200-34644000	Active TSS	Lung	lung
29	chr11:34643200-34644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:34643200-34644200	Enhancers	Brain Hippocampus Middle	brain
31	chr11:34643200-34644200	Enhancers	HepG2	liver
32	chr11:34643200-34644400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:34643400-34643800	Enhancers	HSMM	muscle
34	chr11:34643400-34643800	Enhancers	NH-A	brain
35	chr11:34643400-34643800	Flanking Active TSS	NHEK	skin
36	chr11:34643400-34644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:34643400-34644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:34643400-34644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:34643400-34644000	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:34643400-34644000	Enhancers	A549	lung
41	chr11:34643400-34644000	Enhancers	Hela-S3	cervix
42	chr11:34643400-34644000	Enhancers	HSMMtube	muscle
43	chr11:34643400-34644000	Enhancers	NHDF-Ad	bronchial
44	chr11:34643400-34644000	Enhancers	NHLF	lung
45	chr11:34643400-34644000	Enhancers	Osteobl	bone
46	chr11:34643400-34645200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:34643600-34643800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:34643600-34643800	Enhancers	Fetal Intestine Large	intestine
49	chr11:34643600-34644000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:34643600-34644000	Flanking Active TSS	Pancreas	Pancrea

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