Variant report

Variant	rs542025234
Chromosome Location	chr11:67254302-67254303
allele	C/T
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	RUNX3	chr11:67253258-67254884	GM12878	blood:	n/a	n/a
2	ELK1	chr11:67254059-67254436	GM12878	blood:	n/a	n/a
3	RELA	chr11:67253530-67254745	GM18505	blood:	n/a	n/a
4	BHLHE40	chr11:67253390-67254649	GM12878	blood:	n/a	n/a
5	USF1	chr11:67254206-67254575	GM12878	blood:	n/a	n/a
6	SPI1	chr11:67254003-67254861	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67254168-67254568	GM12878	blood:	n/a	n/a
8	BCLAF1	chr11:67253735-67254791	GM12878	blood:	n/a	chr11:67254371-67254380
9	POU2F2	chr11:67253887-67254553	GM12878	blood:	n/a	n/a
10	EBF1	chr11:67253356-67254733	GM12878	blood:	n/a	chr11:67254366-67254375 chr11:67254364-67254377
11	POU2F2	chr11:67254065-67254484	GM12878	blood:	n/a	n/a
12	MAZ	chr11:67253427-67254605	GM12878	blood:	n/a	n/a
13	STAT5A	chr11:67253843-67254783	GM12878	blood:	n/a	chr11:67253865-67253877 chr11:67254426-67254438
14	SIN3A	chr11:67254051-67254432	GM12878	blood:	n/a	n/a
15	CTCF	chr11:67254180-67254330	GM12873	blood:	n/a	n/a
16	CHD2	chr11:67253492-67254616	GM12878	blood:	n/a	n/a
17	RELA	chr11:67253468-67254661	GM19099	blood:	n/a	n/a
18	NFIC	chr11:67253416-67254920	GM12878	blood:	n/a	n/a
19	BATF	chr11:67253866-67254740	GM12878	blood:	n/a	n/a
20	STAT3	chr11:67253440-67254509	GM12878	blood:	n/a	chr11:67253865-67253877 chr11:67254426-67254438
21	POLR2A	chr11:67254002-67254709	GM12878	blood:	n/a	n/a
22	POU2F2	chr11:67254070-67254526	GM12891	blood:	n/a	n/a
23	EGR1	chr11:67254127-67254510	GM12878	blood:	n/a	chr11:67254326-67254340 chr11:67254398-67254408
24	NFATC1	chr11:67253720-67254663	GM12878	blood:	n/a	n/a
25	BATF	chr11:67254025-67254438	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:67254092-67254489	GM12878	blood:	n/a	chr11:67254371-67254380
27	RUNX3	chr11:67253331-67254829	GM12878	blood:	n/a	n/a
28	PML	chr11:67253309-67254877	GM12878	blood:	n/a	n/a
29	PAX5	chr11:67254151-67254442	GM12878	blood:	n/a	n/a
30	STAT1	chr11:67253534-67254623	GM12878	blood:	n/a	chr11:67253865-67253877 chr11:67254426-67254438
31	POLR2A	chr11:67254058-67254671	GM12892	blood:	n/a	n/a
32	RELA	chr11:67254101-67254616	GM12892	blood:	n/a	n/a
33	FOXM1	chr11:67253768-67254764	GM12878	blood:	n/a	n/a
34	SP1	chr11:67253953-67254690	GM12878	blood:	n/a	n/a
35	CEBPB	chr11:67253406-67254840	GM12878	blood:	n/a	n/a
36	ATF2	chr11:67253870-67254812	GM12878	blood:	n/a	n/a
37	CHD1	chr11:67254087-67254628	GM12878	blood:	n/a	n/a
38	SMC3	chr11:67254025-67254459	GM12878	blood:	n/a	n/a
39	TBP	chr11:67253355-67254422	GM12878	blood:	n/a	n/a
40	BCL3	chr11:67254063-67254687	GM12878	blood:	n/a	chr11:67254371-67254380
41	REST	chr11:67254156-67254333	GM12878	blood:	n/a	n/a
42	RELA	chr11:67253460-67254740	GM12891	blood:	n/a	n/a
43	BCLAF1	chr11:67253881-67254716	GM12878	blood:	n/a	chr11:67254371-67254380
44	POLR2A	chr11:67253330-67254815	GM12892	blood:	n/a	n/a
45	ELF1	chr11:67253444-67254623	GM12878	blood:	n/a	n/a
46	ELF1	chr11:67254008-67254755	GM12878	blood:	n/a	n/a
47	MXI1	chr11:67253443-67254669	GM12878	blood:	n/a	n/a
48	YY1	chr11:67253912-67254798	GM12878	blood:	n/a	n/a
49	RELA	chr11:67253501-67254688	GM10847	blood:	n/a	n/a
50	POLR2A	chr11:67253415-67254418	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67253095..67255847-chr16:2577337..2579833,2	MCF-7	breast:
2	chr11:67250038..67251911-chr11:67252963..67255145,2	MCF-7	breast:
3	chr11:67252342..67255361-chr11:67262827..67265750,4	MCF-7	breast:
4	chr11:67207077..67209536-chr11:67252899..67255473,2	K562	blood:
5	chr11:67252207..67254745-chr11:67287630..67289973,2	K562	blood:

Variant related genes	Relation type
AIP	TF binding region
ENSG00000162066	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
21	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
22	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
23	nsv1067893	chr11:67253452-67255013	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67250800-67254800	Weak transcription	Ovary	ovary
2	chr11:67251000-67254400	Enhancers	Spleen	Spleen
3	chr11:67251000-67257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:67251200-67257400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:67251200-67257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:67251400-67255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:67251400-67257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:67251400-67268000	Weak transcription	HSMMtube	muscle
10	chr11:67251400-67271200	Weak transcription	HSMM	muscle
11	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
12	chr11:67251600-67255200	Weak transcription	Osteobl	bone
13	chr11:67251600-67256400	Weak transcription	HMEC	breast
14	chr11:67251600-67256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:67251600-67256600	Weak transcription	Aorta	Aorta
16	chr11:67251600-67256800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:67251600-67257200	Weak transcription	A549	lung
18	chr11:67251600-67259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:67251600-67268400	Weak transcription	NH-A	brain
20	chr11:67251600-67268600	Strong transcription	Fetal Intestine Small	intestine
21	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
22	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
23	chr11:67251800-67255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:67252000-67254400	Enhancers	K562	blood
25	chr11:67252000-67255000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:67252000-67257600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:67252200-67254400	Weak transcription	Fetal Brain Female	brain
28	chr11:67252400-67254400	Weak transcription	Brain Substantia Nigra	brain
29	chr11:67252400-67254400	Weak transcription	Right Ventricle	heart
30	chr11:67252400-67255200	Weak transcription	Fetal Kidney	kidney
31	chr11:67252400-67256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:67252400-67256800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:67252600-67254400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:67252600-67254400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:67252600-67254600	Weak transcription	Fetal Lung	lung
36	chr11:67252600-67255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:67252600-67255200	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:67252600-67255200	Weak transcription	Placenta	Placenta
39	chr11:67252600-67255400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:67252600-67257600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:67252600-67270000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:67252600-67270200	Strong transcription	Fetal Stomach	stomach
43	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
44	chr11:67252800-67254400	Weak transcription	Liver	Liver
45	chr11:67252800-67254400	Weak transcription	Colonic Mucosa	Colon
46	chr11:67252800-67254600	Weak transcription	Left Ventricle	heart
47	chr11:67252800-67255400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:67252800-67255600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:67252800-67255600	Weak transcription	Pancreas	Pancrea
50	chr11:67252800-67255600	Weak transcription	Rectal Smooth Muscle	rectum

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