Variant report

Variant	rs949496
Chromosome Location	chr7:78966379-78966380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10230177	0.80[AMR][1000 genomes]
rs10232677	0.82[EUR][1000 genomes]
rs10234403	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10240268	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241692	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10270040	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10270764	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10271328	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10953821	0.85[EUR][1000 genomes]
rs10953826	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953827	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953828	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953835	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768754	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12111592	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12111980	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12154980	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12216581	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539220	0.85[EUR][1000 genomes]
rs12540324	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12666243	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706101	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706102	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13222018	0.85[EUR][1000 genomes]
rs13224739	0.85[EUR][1000 genomes]
rs13230579	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13240307	0.85[EUR][1000 genomes]
rs13247562	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13306942	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1358473	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1406152	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1528263	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1528265	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1528281	0.85[EUR][1000 genomes]
rs1554833	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1554834	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1554835	0.80[EUR][1000 genomes]
rs1554836	0.80[EUR][1000 genomes]
rs1881292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881296	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1918938	0.85[EUR][1000 genomes]
rs1918939	0.85[EUR][1000 genomes]
rs2364902	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28410701	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2886212	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34059048	0.81[ASN][1000 genomes]
rs34066812	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35512002	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4129689	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4143262	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4256536	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4445162	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4727841	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730746	0.85[EUR][1000 genomes]
rs4730747	0.85[EUR][1000 genomes]
rs58309104	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62458973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466597	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6946286	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6961357	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6965742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71531164	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7341488	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7790555	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7809944	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9886146	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9886330	0.87[EUR][1000 genomes];0.87[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	esv2762681	chr7:78958864-78982993	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78961800-78969200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:78963800-78966800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:78966000-78967000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:78966200-78967000	Enhancers	Brain Substantia Nigra	brain
5	chr7:78966200-78967200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:78966200-78967200	Enhancers	Fetal Heart	heart

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