Variant report

Variant	rs62110232
Chromosome Location	chr19:38358096-38358097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11878261	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16975881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16975884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16975930	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110187	0.81[AMR][1000 genomes]
rs62110188	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62110190	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110192	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110193	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62110194	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110195	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110217	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62110222	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62110229	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112272	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112273	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112274	0.80[EUR][1000 genomes]
rs62112275	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112277	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112279	0.80[EUR][1000 genomes]
rs62112280	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112282	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112285	0.81[ASN][1000 genomes]
rs62112286	0.81[ASN][1000 genomes]
rs62112287	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112288	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112289	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112290	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62112291	0.80[EUR][1000 genomes]
rs62120128	0.80[EUR][1000 genomes]
rs62120129	0.80[EUR][1000 genomes]
rs7245965	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246147	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7247345	0.87[AMR][1000 genomes]
rs7251502	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7257838	0.80[EUR][1000 genomes]
rs7258680	0.80[EUR][1000 genomes]
rs8100469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8105754	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1062040	chr19:38294465-38370456	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1832898	chr19:38341754-38362792	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1825275	chr19:38341754-38376485	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv960836	chr19:38355208-38370306	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38355200-38359000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr19:38356200-38365600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:38356800-38365600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:38357600-38358800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr19:38357800-38358200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:38357800-38358200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr19:38357800-38358200	Flanking Active TSS	NHEK	skin
8	chr19:38357800-38358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:38357800-38359200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr19:38357800-38359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:38358000-38358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:38358000-38359000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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