Variant report

Variant	rs73375139
Chromosome Location	chr7:78947860-78947861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10085854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225318	0.91[AFR][1000 genomes];1.00[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10263112	0.83[AFR][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	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152238	1.00[AFR][1000 genomes];1.00[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	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178169	1.00[EUR][1000 genomes]
rs28401690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450541	0.93[AFR][1000 genomes];1.00[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	0.91[AFR][1000 genomes];1.00[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59620956	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61075638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466602	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.93[AFR][1000 genomes];1.00[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78946600-78949400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:78946800-78948000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:78946800-78948000	Enhancers	HepG2	liver
4	chr7:78947000-78948000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:78947400-78948400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:78947400-78951000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:78947400-78955200	Weak transcription	Aorta	Aorta
8	chr7:78947400-78956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:78947600-78948600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:78947600-78948600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78947600-78948600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:78947600-78948800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:78947600-78948800	Weak transcription	Osteobl	bone
14	chr7:78947800-78948000	Flanking Active TSS	A549	lung

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