Variant report

Variant	rs191023242
Chromosome Location	chr11:67272101-67272102
allele	A/C
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	YY1	chr11:67271668-67272110	K562	blood:	n/a	chr11:67271747-67271761
9	MXI1	chr11:67271041-67274152	SK-N-SH	brain:	n/a	n/a
10	CHD1	chr11:67271489-67275717	IMR90	lung:	n/a	chr11:67272871-67272881
11	HMGN3	chr11:67271436-67273890	K562	blood:	n/a	n/a
12	MAZ	chr11:67271837-67273937	Hela-S3	cervix:	n/a	chr11:67272738-67272748 chr11:67271919-67271928
13	ZBTB7A	chr11:67271732-67272297	K562	blood:	n/a	chr11:67272109-67272116 chr11:67271941-67271949
14	POLR2A	chr11:67271946-67273313	SK-N-MC	brain:	n/a	n/a
15	MXI1	chr11:67271913-67272248	K562	blood:	n/a	n/a
16	MTA3	chr11:67271995-67272687	GM12878	blood:	n/a	n/a
17	MXI1	chr11:67270977-67274595	IMR90	lung:	n/a	n/a
18	MAZ	chr11:67271841-67272198	GM12878	blood:	n/a	chr11:67271919-67271928
19	POLR2A	chr11:67271683-67273966	K562	blood:	n/a	n/a
20	SIN3A	chr11:67271446-67272848	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:67272044-67274535	SK-N-SH	brain:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67272063-67272076 chr11:67272092-67272105 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
22	POLR2A	chr11:67271656-67273878	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr11:67271769-67273065	K562	blood:	n/a	chr11:67272739-67272751 chr11:67272757-67272769
24	RFX5	chr11:67271982-67272140	Hela-S3	cervix:	n/a	n/a
25	MAX	chr11:67271523-67273957	K562	blood:	n/a	chr11:67272738-67272748 chr11:67271919-67271928
26	SIN3AK20	chr11:67271726-67272138	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB7A	chr11:67271774-67273912	ECC-1	luminal epithelium:	n/a	chr11:67272728-67272737 chr11:67272109-67272116 chr11:67271941-67271949
28	PAX5	chr11:67271668-67272101	GM12892	blood:	n/a	n/a
29	ELF1	chr11:67271335-67273967	GM12878	blood:	n/a	chr11:67271675-67271687 chr11:67272739-67272751 chr11:67272757-67272769
30	MAZ	chr11:67271223-67274372	IMR90	lung:	n/a	chr11:67272738-67272748 chr11:67271286-67271296 chr11:67271919-67271928
31	CREB1	chr11:67271737-67272162	A549	lung:	n/a	n/a
32	POLR2A	chr11:67271601-67272563	H1-neurons	neurons:	n/a	n/a
33	HA-E2F1	chr11:67271805-67272190	Hela-S3	cervix:	n/a	chr11:67271971-67271983 chr11:67272042-67272051
34	MXI1	chr11:67271919-67272116	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:67271933-67274598	K562	blood:	n/a	n/a
36	POLR2A	chr11:67271213-67272249	H1-neurons	neurons:	n/a	n/a
37	MAX	chr11:67271818-67274124	A549	lung:	n/a	chr11:67272738-67272748 chr11:67271919-67271928
38	PML	chr11:67271976-67272362	GM12878	blood:	n/a	n/a
39	CTCF	chr11:67272060-67272210	AG04449	skin:	n/a	chr11:67272063-67272076 chr11:67272092-67272105
40	TCF12	chr11:67272030-67274171	A549	lung:	n/a	n/a
41	CREB1	chr11:67271748-67274018	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:67271695-67272124	K562	blood:	n/a	n/a
43	POLR2A	chr11:67272075-67273007	GM12878	blood:	n/a	n/a
44	SMARCB1	chr11:67271719-67273910	Hela-S3	cervix:	n/a	n/a
45	ZBTB7A	chr11:67271632-67273897	K562	blood:	n/a	chr11:67272728-67272737 chr11:67272109-67272116 chr11:67271941-67271949
46	POLR2A	chr11:67271807-67273911	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:67271848-67272999	GM12892	blood:	n/a	n/a
48	REST	chr11:67270989-67272486	H1-neurons	neurons:	n/a	chr11:67271172-67271185 chr11:67272371-67272384 chr11:67271073-67271086 chr11:67272242-67272255 chr11:67271170-67271188 chr11:67271554-67271567
49	STAT5A	chr11:67272047-67272689	GM12878	blood:	n/a	n/a
50	HCFC1	chr11:67271920-67274078	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	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
3	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
4	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
5	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
6	chr11:67157917..67161280-chr11:67271512..67274163,3	MCF-7	breast:
7	chr11:67271586..67272304-chr9:91932920..91933728,2	Hela-S3	cervix:
8	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
9	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
10	chr11:67211079..67212845-chr11:67271889..67273813,2	MCF-7	breast:
11	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
12	chr11:67070027..67071819-chr11:67270841..67273414,2	MCF-7	breast:
13	chr11:67180570..67183103-chr11:67271029..67272927,2	K562	blood:
14	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
15	chr11:67208782..67211032-chr11:67270751..67273545,3	K562	blood:
16	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:
17	chr11:67270685..67273123-chr11:67274247..67277444,3	K562	blood:
18	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
19	chr11:67269882..67273775-chr11:67275933..67278364,3	MCF-7	breast:
20	chr11:67271788..67274805-chr11:67372108..67375948,3	K562	blood:
21	chr11:67209787..67211313-chr11:67271082..67272865,2	MCF-7	breast:
22	chr11:67174684..67176198-chr11:67271900..67273931,2	K562	blood:
23	chr11:67271930..67272668-chr14:102553152..102554062,2	Hela-S3	cervix:
24	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:
25	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
26	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
27	chr11:67195686..67198461-chr11:67271538..67273445,2	K562	blood:
28	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
29	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
30	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:

Variant related genes	Relation type
PITPNM1	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000080824	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000187742	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000167792	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	chr11:67270000-67272200	Enhancers	Fetal Brain Male	brain
2	chr11:67270600-67276600	Enhancers	Fetal Heart	heart
3	chr11:67270800-67272400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:67270800-67273000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:67271000-67272400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:67271000-67272600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:67271000-67273000	Active TSS	Brain Angular Gyrus	brain
8	chr11:67271000-67276800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:67271200-67272200	Enhancers	Fetal Lung	lung
10	chr11:67271200-67272600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:67271200-67272600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:67271200-67272600	Active TSS	NHLF	lung
13	chr11:67271200-67273000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:67271200-67273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:67271200-67273000	Active TSS	Osteobl	bone
16	chr11:67271200-67273600	Flanking Active TSS	HMEC	breast
17	chr11:67271200-67273800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:67271200-67275400	Flanking Active TSS	Pancreas	Pancrea
19	chr11:67271200-67275600	Flanking Active TSS	Colonic Mucosa	Colon
20	chr11:67271400-67272200	Active TSS	Rectal Smooth Muscle	rectum
21	chr11:67271400-67272800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:67271400-67272800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67271400-67272800	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:67271400-67273000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:67271400-67273000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:67271400-67273000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:67271400-67273000	Active TSS	Brain Anterior Caudate	brain
28	chr11:67271400-67273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:67271400-67273000	Active TSS	A549	lung
30	chr11:67271400-67273000	Active TSS	HSMMtube	muscle
31	chr11:67271400-67273000	Active TSS	NHEK	skin
32	chr11:67271400-67273200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr11:67271400-67273600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:67271400-67273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:67271600-67272200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:67271600-67272200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:67271600-67272200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:67271600-67272200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:67271600-67272200	Active TSS	Duodenum Mucosa	Duodenum
40	chr11:67271600-67272200	Active TSS	Right Atrium	heart
41	chr11:67271600-67272200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:67271600-67272400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:67271600-67272400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr11:67271600-67272600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:67271600-67272600	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr11:67271600-67272800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:67271600-67272800	Active TSS	Primary B cells from peripheral blood	blood
48	chr11:67271600-67272800	Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:67271600-67272800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:67271600-67272800	Active TSS	Gastric	stomach

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