Variant report

Variant	rs11773464
Chromosome Location	chr7:111903632-111903633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111900844..111903692-chr7:111905399..111908941,4	MCF-7	breast:
2	chr7:111897692..111901157-chr7:111901324..111906297,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10233673	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10240912	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251236	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10257677	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10266365	0.81[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs10272976	0.94[ASW][hapmap];0.88[CEU][hapmap];0.88[GIH][hapmap]
rs10435366	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs10953706	0.87[ASN][1000 genomes]
rs12113149	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12113634	0.81[JPT][hapmap]
rs12154685	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12537746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705816	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12705817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2708600	0.94[JPT][hapmap]
rs2708601	0.86[JPT][hapmap]
rs3948719	0.88[CEU][hapmap];0.88[GIH][hapmap]
rs4132325	0.84[ASN][1000 genomes]
rs4464880	0.81[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4640999	0.86[ASN][1000 genomes]
rs4727766	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730519	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730524	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6949809	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6966390	0.81[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6966694	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974364	0.81[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6976889	1.00[CEU][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978767	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6979385	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs736771	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs757195	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs757196	0.86[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7789649	0.94[JPT][hapmap]
rs7792159	0.86[ASN][1000 genomes]
rs7802828	0.84[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7811283	0.86[ASN][1000 genomes]
rs886353	0.82[CEU][hapmap]
rs960348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:111894600-111905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:111895600-111905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:111896000-111913000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
9	chr7:111897600-111908000	Weak transcription	HepG2	liver
10	chr7:111900000-111905200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:111900800-111903800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:111901000-111903800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:111901000-111904000	Enhancers	Brain Anterior Caudate	brain
14	chr7:111902200-111905000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:111902400-111903800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:111902400-111903800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr7:111902400-111905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:111902600-111905000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:111902800-111903800	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:111902800-111904000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:111903000-111903800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:111903000-111903800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:111903000-111903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:111903000-111903800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:111903000-111903800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:111903000-111903800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:111903000-111903800	Enhancers	Psoas Muscle	Psoas
28	chr7:111903000-111903800	Enhancers	Right Atrium	heart
29	chr7:111903000-111903800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:111903000-111903800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:111903000-111903800	Enhancers	Small Intestine	intestine
32	chr7:111903000-111904000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:111903000-111904000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:111903000-111904000	Enhancers	Brain Angular Gyrus	brain
35	chr7:111903000-111904000	Enhancers	Brain Hippocampus Middle	brain
36	chr7:111903000-111904000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:111903000-111904200	Enhancers	Brain Substantia Nigra	brain
38	chr7:111903000-111904200	Enhancers	Ovary	ovary
39	chr7:111903200-111903800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:111903200-111903800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr7:111903200-111903800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:111903200-111903800	Active TSS	Colonic Mucosa	Colon
43	chr7:111903200-111903800	Enhancers	Fetal Kidney	kidney
44	chr7:111903200-111903800	Enhancers	Gastric	stomach
45	chr7:111903200-111903800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:111903200-111903800	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:111903200-111903800	Enhancers	NHDF-Ad	bronchial
48	chr7:111903200-111904000	Enhancers	Fetal Heart	heart
49	chr7:111903200-111904000	Enhancers	HSMMtube	muscle
50	chr7:111903200-111904200	Enhancers	Liver	Liver

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