Variant report

Variant	rs552551578
Chromosome Location	chr11:67253606-67253607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

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	RELA	chr11:67253530-67254745	GM18505	blood:	n/a	n/a
3	YY1	chr11:67253436-67253690	K562	blood:	n/a	n/a
4	POLR2A	chr11:67253394-67253835	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:67253440-67253807	GM18951	blood:	n/a	n/a
6	ZNF143	chr11:67253452-67253790	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:67253390-67254649	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67253362-67253786	HCT-116	colon:	n/a	n/a
9	POU2F2	chr11:67253461-67253743	GM12878	blood:	n/a	n/a
10	EBF1	chr11:67253356-67254733	GM12878	blood:	n/a	chr11:67254366-67254375 chr11:67254364-67254377
11	MAZ	chr11:67253427-67254605	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67253381-67253855	GM12878	blood:	n/a	n/a
13	FOXM1	chr11:67253380-67253834	GM12878	blood:	n/a	n/a
14	TCF12	chr11:67253449-67253718	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:67253421-67253769	GM12891	blood:	n/a	n/a
16	PML	chr11:67253504-67253697	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67253415-67253822	GM19193	blood:	n/a	n/a
18	CHD1	chr11:67253362-67253689	GM12878	blood:	n/a	n/a
19	CHD2	chr11:67253492-67254616	GM12878	blood:	n/a	n/a
20	RELA	chr11:67253468-67254661	GM19099	blood:	n/a	n/a
21	TCF3	chr11:67253427-67253731	GM12878	blood:	n/a	n/a
22	NFIC	chr11:67253416-67254920	GM12878	blood:	n/a	n/a
23	STAT3	chr11:67253440-67254509	GM12878	blood:	n/a	chr11:67253865-67253877 chr11:67254426-67254438
24	POLR2A	chr11:67253407-67253827	GM19099	blood:	n/a	n/a
25	RUNX3	chr11:67253331-67254829	GM12878	blood:	n/a	n/a
26	PML	chr11:67253309-67254877	GM12878	blood:	n/a	n/a
27	SPI1	chr11:67253429-67253968	GM12878	blood:	n/a	n/a
28	STAT1	chr11:67253534-67254623	GM12878	blood:	n/a	chr11:67253865-67253877 chr11:67254426-67254438
29	POLR2A	chr11:67253284-67253951	GM12878	blood:	n/a	n/a
30	ELF1	chr11:67253362-67253815	GM12878	blood:	n/a	n/a
31	TAF1	chr11:67253388-67253781	GM12878	blood:	n/a	n/a
32	CEBPB	chr11:67253406-67254840	GM12878	blood:	n/a	n/a
33	TBP	chr11:67253355-67254422	GM12878	blood:	n/a	n/a
34	SP1	chr11:67253333-67253858	GM12878	blood:	n/a	n/a
35	RELA	chr11:67253460-67254740	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:67253330-67254815	GM12892	blood:	n/a	n/a
37	ELF1	chr11:67253444-67254623	GM12878	blood:	n/a	n/a
38	TAF1	chr11:67253445-67253734	GM12878	blood:	n/a	n/a
39	MXI1	chr11:67253443-67254669	GM12878	blood:	n/a	n/a
40	RELA	chr11:67253501-67254688	GM10847	blood:	n/a	n/a
41	POLR2A	chr11:67253394-67253816	GM15510	blood:	n/a	n/a
42	POLR2A	chr11:67253415-67254418	GM12891	blood:	n/a	n/a
43	RELA	chr11:67253473-67254575	GM15510	blood:	n/a	n/a
44	POLR2A	chr11:67253405-67253822	GM18526	blood:	n/a	n/a
45	POLR2A	chr11:67253429-67254593	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:67253408-67253829	GM18505	blood:	n/a	n/a
47	POU2F2	chr11:67253394-67253865	GM12878	blood:	n/a	n/a
48	TAF1	chr11:67253485-67253687	GM12891	blood:	n/a	n/a
49	POLR2A	chr11:67253378-67254634	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr11:67253446-67254635	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67253095..67255847-chr16:2577337..2579833,2	MCF-7	breast:
2	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
3	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
4	chr11:67250038..67251911-chr11:67252963..67255145,2	MCF-7	breast:
5	chr11:67252342..67255361-chr11:67262827..67265750,4	MCF-7	breast:
6	chr11:67207077..67209536-chr11:67252899..67255473,2	K562	blood:
7	chr11:67252207..67254745-chr11:67287630..67289973,2	K562	blood:
8	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:

No data

Variant related genes	Relation type
AIP	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000162066	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175505	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67250800-67254800	Weak transcription	Ovary	ovary
2	chr11:67251000-67253800	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:67251000-67253800	Enhancers	Lung	lung
4	chr11:67251000-67254400	Enhancers	Spleen	Spleen
5	chr11:67251000-67257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:67251200-67257400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:67251200-67257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:67251400-67255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:67251400-67257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:67251400-67268000	Weak transcription	HSMMtube	muscle
12	chr11:67251400-67271200	Weak transcription	HSMM	muscle
13	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
14	chr11:67251600-67253800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:67251600-67254000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:67251600-67254000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:67251600-67255200	Weak transcription	Osteobl	bone
18	chr11:67251600-67256400	Weak transcription	HMEC	breast
19	chr11:67251600-67256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:67251600-67256600	Weak transcription	Aorta	Aorta
21	chr11:67251600-67256800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:67251600-67257200	Weak transcription	A549	lung
23	chr11:67251600-67259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:67251600-67268400	Weak transcription	NH-A	brain
25	chr11:67251600-67268600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
27	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
28	chr11:67251800-67253800	Enhancers	Hela-S3	cervix
29	chr11:67251800-67255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:67252000-67254400	Enhancers	K562	blood
31	chr11:67252000-67255000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:67252000-67257600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:67252200-67254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:67252200-67254400	Weak transcription	Fetal Brain Female	brain
35	chr11:67252400-67254000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:67252400-67254400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:67252400-67254400	Weak transcription	Right Ventricle	heart
38	chr11:67252400-67255200	Weak transcription	Fetal Kidney	kidney
39	chr11:67252400-67256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:67252400-67256800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:67252600-67253800	Weak transcription	Gastric	stomach
42	chr11:67252600-67254000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:67252600-67254000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:67252600-67254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:67252600-67254200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:67252600-67254200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:67252600-67254200	Weak transcription	Brain Anterior Caudate	brain
48	chr11:67252600-67254200	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:67252600-67254200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:67252600-67254200	Weak transcription	NHEK	skin

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