Variant report

Variant	rs72853712
Chromosome Location	chr11:8984690-8984691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8984404-8984753	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:8984369-8987031	GM12891	blood:	n/a	n/a
3	STAT3	chr11:8984679-8984739	MCF10A-Er-Src	breast:	n/a	n/a
4	ATF1	chr11:8984050-8984701	K562	blood:	n/a	n/a
5	CEBPB	chr11:8984455-8984817	K562	blood:	n/a	n/a
6	TAL1	chr11:8984357-8984810	K562	blood:	n/a	n/a
7	TEAD4	chr11:8984285-8984806	K562	blood:	n/a	n/a
8	TEAD4	chr11:8984285-8984785	K562	blood:	n/a	n/a
9	POLR2A	chr11:8983991-8986899	PBDE	blood:	n/a	n/a
10	MXI1	chr11:8984441-8987169	SK-N-SH	brain:	n/a	n/a
11	ARID3A	chr11:8984460-8984742	K562	blood:	n/a	n/a
12	GATA1	chr11:8983930-8985414	PBDE	blood:	n/a	chr11:8985252-8985262 chr11:8984461-8984470
13	EP300	chr11:8984414-8985061	K562	blood:	n/a	chr11:8984450-8984459
14	CUX1	chr11:8984382-8984752	K562	blood:	n/a	n/a
15	WRNIP1	chr11:8984555-8984746	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8983362..8985132-chr11:9043437..9045026,2	K562	blood:
2	chr11:8983863..8986997-chr11:9158044..9162292,6	MCF-7	breast:
3	chr11:8977155..8979531-chr11:8982227..8985372,3	MCF-7	breast:
4	chr11:8705138..8707621-chr11:8984474..8986069,2	K562	blood:
5	chr11:8699371..8704185-chr11:8984475..8986762,4	K562	blood:
6	chr11:8984349..8987280-chr11:9024480..9026486,3	K562	blood:
7	chr11:8931659..8933906-chr11:8984325..8986430,2	K562	blood:

No data

Variant related genes	Relation type
TMEM9B-AS1	TF binding region
ENSG00000175356	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000212607	Chromatin interaction
ENSG00000253973	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000254900	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1025438	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769977	0.85[ASN][1000 genomes]
rs10840156	0.85[ASN][1000 genomes]
rs12785559	0.85[ASN][1000 genomes]
rs12786377	0.85[ASN][1000 genomes]
rs12790020	0.85[ASN][1000 genomes]
rs12794962	0.85[ASN][1000 genomes]
rs12798311	0.89[ASN][1000 genomes]
rs12805109	0.85[ASN][1000 genomes]
rs1347016	0.98[ASN][1000 genomes]
rs1985026	0.85[ASN][1000 genomes]
rs2016844	0.87[ASN][1000 genomes]
rs2056903	0.92[ASN][1000 genomes]
rs2116510	0.98[ASN][1000 genomes]
rs2116511	0.98[ASN][1000 genomes]
rs2163625	0.82[ASN][1000 genomes]
rs2246878	0.93[ASN][1000 genomes]
rs2247038	0.93[ASN][1000 genomes]
rs2252102	0.87[ASN][1000 genomes]
rs2316541	0.95[ASN][1000 genomes]
rs2568047	0.85[ASN][1000 genomes]
rs2568069	0.98[ASN][1000 genomes]
rs2568074	0.93[ASN][1000 genomes]
rs2568075	0.93[ASN][1000 genomes]
rs2568077	0.93[ASN][1000 genomes]
rs2568079	0.96[ASN][1000 genomes]
rs2568081	0.95[ASN][1000 genomes]
rs2568086	0.98[ASN][1000 genomes]
rs2568087	0.98[ASN][1000 genomes]
rs2568088	0.91[ASN][1000 genomes]
rs2653590	0.98[ASN][1000 genomes]
rs2653594	0.81[ASN][1000 genomes]
rs2653597	0.88[ASN][1000 genomes]
rs2653601	0.93[ASN][1000 genomes]
rs2653604	0.98[ASN][1000 genomes]
rs2653611	0.96[ASN][1000 genomes]
rs2742473	0.85[ASN][1000 genomes]
rs2742486	0.98[ASN][1000 genomes]
rs2742487	0.98[ASN][1000 genomes]
rs2742488	0.98[ASN][1000 genomes]
rs2742489	0.91[ASN][1000 genomes]
rs2742491	0.98[ASN][1000 genomes]
rs2742493	0.98[ASN][1000 genomes]
rs2742495	0.94[ASN][1000 genomes]
rs2742496	0.95[ASN][1000 genomes]
rs2742497	0.96[ASN][1000 genomes]
rs2742504	0.96[ASN][1000 genomes]
rs2742505	0.96[ASN][1000 genomes]
rs2742512	0.93[ASN][1000 genomes]
rs2742513	0.93[ASN][1000 genomes]
rs2742514	0.93[ASN][1000 genomes]
rs2742519	0.88[ASN][1000 genomes]
rs4370967	0.81[ASN][1000 genomes]
rs4910313	0.85[ASN][1000 genomes]
rs7124403	0.85[ASN][1000 genomes]
rs72851596	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72852783	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72852790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940895	0.93[ASN][1000 genomes]
rs7942026	0.83[ASN][1000 genomes]
rs909464	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:8970600-8985000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:8973600-8985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:8977400-8984800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:8977600-8985000	Weak transcription	Esophagus	oesophagus
9	chr11:8977600-8985000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:8978000-8985000	Weak transcription	Gastric	stomach
11	chr11:8978000-8985000	Weak transcription	Lung	lung
12	chr11:8981000-8984800	Weak transcription	Right Atrium	heart
13	chr11:8981000-8985000	Weak transcription	Left Ventricle	heart
14	chr11:8981200-8985200	Weak transcription	Ovary	ovary
15	chr11:8981600-8984800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:8981600-8984800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:8981600-8984800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:8981600-8984800	Weak transcription	Fetal Kidney	kidney
19	chr11:8981600-8985000	Weak transcription	Aorta	Aorta
20	chr11:8982000-8984800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:8982800-8987000	Active TSS	GM12878-XiMat	blood
22	chr11:8983000-8984800	Enhancers	Liver	Liver
23	chr11:8983400-8984800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:8984000-8984800	Enhancers	HUVEC	blood vessel
25	chr11:8984000-8985000	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:8984000-8985000	Enhancers	Stomach Mucosa	stomach
27	chr11:8984000-8985200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:8984200-8984800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:8984200-8984800	Enhancers	Primary B cells from cord blood	blood
30	chr11:8984200-8984800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:8984200-8984800	Enhancers	Adipose Nuclei	Adipose
32	chr11:8984200-8984800	Enhancers	Colon Smooth Muscle	Colon
33	chr11:8984200-8984800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:8984200-8984800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr11:8984200-8985000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:8984200-8985000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:8984200-8985000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:8984200-8985000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr11:8984200-8985000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:8984200-8985000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:8984200-8985000	Enhancers	Fetal Lung	lung
42	chr11:8984200-8985000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:8984200-8985200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:8984200-8985200	Enhancers	Small Intestine	intestine
45	chr11:8984200-8985200	Flanking Active TSS	NHEK	skin
46	chr11:8984200-8985400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:8984200-8985400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:8984200-8985400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:8984200-8985400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:8984200-8985400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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