Variant report

Variant	rs59620956
Chromosome Location	chr7:78946803-78946804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10085854	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225318	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244816	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10258290	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264341	1.00[EUR][1000 genomes]
rs10274797	1.00[EUR][1000 genomes]
rs11972217	0.90[EUR][1000 genomes]
rs11974844	0.90[EUR][1000 genomes]
rs11974872	0.90[EUR][1000 genomes]
rs11977156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979157	0.90[EUR][1000 genomes]
rs11980152	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666679	0.91[EUR][1000 genomes]
rs12666680	1.00[EUR][1000 genomes]
rs12670442	1.00[EUR][1000 genomes]
rs12670971	0.95[EUR][1000 genomes]
rs12670981	1.00[EUR][1000 genomes]
rs12706106	1.00[EUR][1000 genomes]
rs12706107	1.00[EUR][1000 genomes]
rs1358471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406153	1.00[EUR][1000 genomes]
rs1406154	1.00[EUR][1000 genomes]
rs1406155	1.00[EUR][1000 genomes]
rs1406156	1.00[EUR][1000 genomes]
rs1528262	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609273	1.00[EUR][1000 genomes]
rs1609274	1.00[EUR][1000 genomes]
rs1609275	1.00[EUR][1000 genomes]
rs1609276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886476	0.90[EUR][1000 genomes]
rs17147873	0.90[EUR][1000 genomes]
rs17152224	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152238	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918933	0.85[EUR][1000 genomes]
rs1997277	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178169	1.00[EUR][1000 genomes]
rs28401690	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450541	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28611031	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28700941	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727839	1.00[EUR][1000 genomes]
rs4727840	1.00[EUR][1000 genomes]
rs4727842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730753	0.87[EUR][1000 genomes]
rs4730757	1.00[EUR][1000 genomes]
rs4730758	1.00[EUR][1000 genomes]
rs56829360	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61075638	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466602	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6963053	1.00[EUR][1000 genomes]
rs6963068	1.00[EUR][1000 genomes]
rs6975958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375128	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375139	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375151	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375156	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv971531	chr7:78944995-78949430	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78945000-78947000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:78945600-78947000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:78946400-78947600	Enhancers	Liver	Liver
4	chr7:78946600-78947600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:78946600-78947600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:78946600-78949400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:78946800-78947000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:78946800-78947000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:78946800-78947400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:78946800-78947400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:78946800-78947400	Enhancers	Brain Hippocampus Middle	brain
12	chr7:78946800-78947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:78946800-78947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:78946800-78947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:78946800-78947600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:78946800-78947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:78946800-78947600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:78946800-78947600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:78946800-78947600	Flanking Active TSS	A549	lung
20	chr7:78946800-78947600	Enhancers	HMEC	breast
21	chr7:78946800-78947600	Enhancers	HUVEC	blood vessel
22	chr7:78946800-78947600	Enhancers	Osteobl	bone
23	chr7:78946800-78948000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:78946800-78948000	Enhancers	HepG2	liver

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