Variant report

Variant	rs7247345
Chromosome Location	chr19:38278965-38278966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10424047	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11878261	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880056	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883255	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975881	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16975884	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16975930	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34206817	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56075341	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56264690	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57504517	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57725815	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867853	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59966837	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62108348	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62108350	0.95[ASN][1000 genomes]
rs62108354	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62110178	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62110183	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110185	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110186	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110187	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110188	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110190	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62110192	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62110193	0.80[AMR][1000 genomes]
rs62110194	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62110195	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62110217	0.81[AMR][1000 genomes]
rs62110222	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62110229	0.87[AMR][1000 genomes]
rs62110230	0.87[AMR][1000 genomes]
rs62110232	0.87[AMR][1000 genomes]
rs62112272	0.80[AMR][1000 genomes]
rs62112273	0.80[AMR][1000 genomes]
rs7245965	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7246147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7251502	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73932955	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8100469	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8101476	1.00[ASN][1000 genomes]
rs8104124	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8105754	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv960835	chr19:38270238-38293706	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38270800-38279800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:38270800-38281000	Weak transcription	Right Ventricle	heart
3	chr19:38270800-38281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:38271000-38281000	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:38271400-38281000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:38277000-38280600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:38278200-38279400	Weak transcription	Pancreas	Pancrea
8	chr19:38278200-38280800	Weak transcription	Left Ventricle	heart

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