Variant report

Variant	rs7717143
Chromosome Location	chr5:61917954-61917955
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61909872..61912743-chr5:61916842..61918403,2	MCF-7	breast:
2	chr5:61915873..61918235-chr5:61922517..61925303,2	K562	blood:
3	chr5:61912906..61915006-chr5:61917150..61920034,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10058598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10060044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060243	0.95[EUR][1000 genomes]
rs10069594	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10069988	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs10079618	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs101091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes]
rs12517326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1301064	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs1301065	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.81[AMR][1000 genomes]
rs1477358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152186	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap]
rs16890800	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2112983	0.96[EUR][1000 genomes]
rs2112984	0.96[EUR][1000 genomes]
rs247231	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs247232	0.82[AMR][1000 genomes]
rs247237	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs247479	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs26635	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs26639	0.81[AMR][1000 genomes]
rs26642	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs27448	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs27931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap]
rs32163	0.82[CEU][hapmap]
rs35119	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs35202928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57199871	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7719851	0.96[EUR][1000 genomes]
rs784916	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap]
rs784918	0.82[AMR][1000 genomes]
rs9632387	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv881734	chr5:61828147-61921815	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
2	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
3	chr5:61875000-61922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:61881400-61939400	Weak transcription	Spleen	Spleen
5	chr5:61882200-61925400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:61883400-61925800	Weak transcription	Psoas Muscle	Psoas
7	chr5:61886800-61941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:61887000-61922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:61888800-61928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:61888800-61937000	Weak transcription	Gastric	stomach
11	chr5:61889200-61923400	Weak transcription	A549	lung
12	chr5:61889600-61925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:61889600-61929200	Weak transcription	NH-A	brain
14	chr5:61889600-61936200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:61891000-61923200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:61893000-61943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:61899800-61923000	Weak transcription	Liver	Liver
18	chr5:61899800-61928200	Weak transcription	Ovary	ovary
19	chr5:61899800-61928400	Weak transcription	Esophagus	oesophagus
20	chr5:61899800-61939600	Weak transcription	Pancreas	Pancrea
21	chr5:61900000-61923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:61900000-61923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:61901800-61923000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:61902000-61922200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:61902000-61922600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:61902000-61934200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:61902200-61922200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:61903000-61925400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:61903400-61923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:61903400-61924000	Weak transcription	Fetal Brain Female	brain
31	chr5:61905000-61925600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:61905200-61923000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:61905200-61927600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:61905400-61923000	Weak transcription	GM12878-XiMat	blood
35	chr5:61905400-61939200	Weak transcription	Fetal Kidney	kidney
36	chr5:61905600-61924000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:61905600-61925400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:61905800-61922800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:61905800-61924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:61905800-61927200	Weak transcription	Fetal Thymus	thymus
41	chr5:61905800-61927400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:61905800-61927800	Weak transcription	Fetal Lung	lung
43	chr5:61906000-61922800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:61906000-61925400	Weak transcription	NHEK	skin
45	chr5:61906000-61927600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:61906000-61946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:61910600-61922600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:61910600-61922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:61910600-61922800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:61910800-61922000	Weak transcription	HUVEC	blood vessel

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