Variant report

Variant	rs535790322
Chromosome Location	chr11:67271819-67271820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:67271730-67273077	PANC-1	pancreas:	n/a	n/a
2	MXI1	chr11:67271695-67272108	GM12878	blood:	n/a	n/a
3	UBTF	chr11:67271720-67272981	K562	blood:	n/a	n/a
4	ELF1	chr11:67271717-67272433	K562	blood:	n/a	n/a
5	MAZ	chr11:67271809-67272112	K562	blood:	n/a	chr11:67271919-67271928
6	CCNT2	chr11:67271695-67273022	K562	blood:	n/a	chr11:67272733-67272742 chr11:67272873-67272882
7	ZBTB7A	chr11:67271800-67273994	ECC-1	luminal epithelium:	n/a	chr11:67272728-67272737 chr11:67272109-67272116 chr11:67271941-67271949
8	MYC	chr11:67271772-67271842	MCF-7	breast:	n/a	n/a
9	YY1	chr11:67271668-67272110	K562	blood:	n/a	chr11:67271747-67271761
10	MXI1	chr11:67271041-67274152	SK-N-SH	brain:	n/a	n/a
11	CHD1	chr11:67271489-67275717	IMR90	lung:	n/a	chr11:67272871-67272881
12	HMGN3	chr11:67271436-67273890	K562	blood:	n/a	n/a
13	MAX	chr11:67271546-67272090	ECC-1	luminal epithelium:	n/a	chr11:67271919-67271928
14	ZBTB7A	chr11:67271732-67272297	K562	blood:	n/a	chr11:67272109-67272116 chr11:67271941-67271949
15	E2F6	chr11:67271684-67272074	K562	blood:	n/a	chr11:67271971-67271983 chr11:67272042-67272051
16	POLR2A	chr11:67271760-67271878	Gliobla	brain:	n/a	n/a
17	MXI1	chr11:67270977-67274595	IMR90	lung:	n/a	n/a
18	POLR2A	chr11:67271683-67273966	K562	blood:	n/a	n/a
19	SIN3A	chr11:67271446-67272848	H1-hESC	embryonic stem cell:	n/a	n/a
20	EGR1	chr11:67271757-67272060	K562	blood:	n/a	chr11:67272043-67272056
21	POLR2A	chr11:67271656-67273878	Hela-S3	cervix:	n/a	n/a
22	ELF1	chr11:67271769-67273065	K562	blood:	n/a	chr11:67272739-67272751 chr11:67272757-67272769
23	POLR2A	chr11:67271717-67271894	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr11:67271523-67273957	K562	blood:	n/a	chr11:67272738-67272748 chr11:67271919-67271928
25	SIN3AK20	chr11:67271726-67272138	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:67271625-67272000	IMR90	lung:	n/a	n/a
27	MXI1	chr11:67271791-67271898	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr11:67271819-67271938	HepG2	liver:	n/a	n/a
29	YY1	chr11:67271793-67272063	K562	blood:	n/a	n/a
30	POLR2A	chr11:67271747-67271886	A549	lung:	n/a	n/a
31	POLR2A	chr11:67271608-67272075	HUVEC	blood vessel:	n/a	n/a
32	ZBTB7A	chr11:67271774-67273912	ECC-1	luminal epithelium:	n/a	chr11:67272728-67272737 chr11:67272109-67272116 chr11:67271941-67271949
33	PAX5	chr11:67271668-67272101	GM12892	blood:	n/a	n/a
34	SIN3AK20	chr11:67271740-67272092	K562	blood:	n/a	n/a
35	ELF1	chr11:67271335-67273967	GM12878	blood:	n/a	chr11:67271675-67271687 chr11:67272739-67272751 chr11:67272757-67272769
36	MAZ	chr11:67271223-67274372	IMR90	lung:	n/a	chr11:67272738-67272748 chr11:67271286-67271296 chr11:67271919-67271928
37	CREB1	chr11:67271737-67272162	A549	lung:	n/a	n/a
38	YY1	chr11:67271694-67272080	GM12878	blood:	n/a	chr11:67271747-67271761
39	POLR2A	chr11:67271604-67272073	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67271704-67271896	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:67271732-67271901	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr11:67271601-67272563	H1-neurons	neurons:	n/a	n/a
43	HA-E2F1	chr11:67271805-67272190	Hela-S3	cervix:	n/a	chr11:67271971-67271983 chr11:67272042-67272051
44	POLR2A	chr11:67271213-67272249	H1-neurons	neurons:	n/a	n/a
45	MAX	chr11:67271818-67274124	A549	lung:	n/a	chr11:67272738-67272748 chr11:67271919-67271928
46	CREB1	chr11:67271748-67274018	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:67271695-67272124	K562	blood:	n/a	n/a
48	SMARCB1	chr11:67271719-67273910	Hela-S3	cervix:	n/a	n/a
49	ZBTB7A	chr11:67271632-67273897	K562	blood:	n/a	chr11:67272728-67272737 chr11:67272109-67272116 chr11:67271941-67271949
50	POLR2A	chr11:67271807-67273911	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
2	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
3	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
4	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
5	chr11:67157917..67161280-chr11:67271512..67274163,3	MCF-7	breast:
6	chr11:67271586..67272304-chr9:91932920..91933728,2	Hela-S3	cervix:
7	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
8	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
9	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
10	chr11:67070027..67071819-chr11:67270841..67273414,2	MCF-7	breast:
11	chr11:67180570..67183103-chr11:67271029..67272927,2	K562	blood:
12	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
13	chr11:67208782..67211032-chr11:67270751..67273545,3	K562	blood:
14	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:
15	chr11:67270685..67273123-chr11:67274247..67277444,3	K562	blood:
16	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
17	chr11:67269882..67273775-chr11:67275933..67278364,3	MCF-7	breast:
18	chr11:67271788..67274805-chr11:67372108..67375948,3	K562	blood:
19	chr11:67209787..67211313-chr11:67271082..67272865,2	MCF-7	breast:
20	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:
21	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
22	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
23	chr11:67195686..67198461-chr11:67271538..67273445,2	K562	blood:
24	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
25	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:

Variant related genes	Relation type
PITPNM1	TF binding region
ENSG00000172830	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000187742	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
6	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
7	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
8	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
13	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
14	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
19	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
20	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
21	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	esv3356975	chr11:67270401-67273249	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67255800-67272000	Weak transcription	Fetal Kidney	kidney
2	chr11:67270000-67272200	Enhancers	Fetal Brain Male	brain
3	chr11:67270600-67272000	Enhancers	Spleen	Spleen
4	chr11:67270600-67276600	Enhancers	Fetal Heart	heart
5	chr11:67270800-67272400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:67270800-67273000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:67271000-67272400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:67271000-67272600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:67271000-67273000	Active TSS	Brain Angular Gyrus	brain
10	chr11:67271000-67276800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:67271200-67272000	Enhancers	Liver	Liver
12	chr11:67271200-67272200	Enhancers	Fetal Lung	lung
13	chr11:67271200-67272600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:67271200-67272600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr11:67271200-67272600	Active TSS	NHLF	lung
16	chr11:67271200-67273000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:67271200-67273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:67271200-67273000	Active TSS	Osteobl	bone
19	chr11:67271200-67273600	Flanking Active TSS	HMEC	breast
20	chr11:67271200-67273800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:67271200-67275400	Flanking Active TSS	Pancreas	Pancrea
22	chr11:67271200-67275600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr11:67271400-67272200	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:67271400-67272800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:67271400-67272800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:67271400-67272800	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:67271400-67273000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:67271400-67273000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:67271400-67273000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:67271400-67273000	Active TSS	Brain Anterior Caudate	brain
31	chr11:67271400-67273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:67271400-67273000	Active TSS	A549	lung
33	chr11:67271400-67273000	Active TSS	HSMMtube	muscle
34	chr11:67271400-67273000	Active TSS	NHEK	skin
35	chr11:67271400-67273200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:67271400-67273600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr11:67271400-67273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr11:67271600-67272000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:67271600-67272000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:67271600-67272000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:67271600-67272000	Active TSS	Brain Germinal Matrix	brain
42	chr11:67271600-67272000	Enhancers	Brain Substantia Nigra	brain
43	chr11:67271600-67272000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr11:67271600-67272000	Active TSS	Fetal Brain Female	brain
45	chr11:67271600-67272000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:67271600-67272000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
47	chr11:67271600-67272000	Enhancers	Placenta	Placenta
48	chr11:67271600-67272000	Active TSS	Fetal Thymus	thymus
49	chr11:67271600-67272000	Active TSS	HUVEC	blood vessel
50	chr11:67271600-67272200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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