Variant report

Variant	rs10506346
Chromosome Location	chr12:57330858-57330859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10506348	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs10876955	0.80[ASN][1000 genomes]
rs10876956	0.80[ASN][1000 genomes]
rs11172064	0.80[ASN][1000 genomes]
rs11172065	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11172066	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11172067	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11172068	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11172069	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1813812	0.86[AFR][1000 genomes]
rs61939617	0.97[ASN][1000 genomes]
rs725956	1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs7296999	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7297019	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs747275	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7958413	1.00[CHB][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv1043846	chr12:57323709-57377509	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57325800-57335200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:57326400-57335200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:57327000-57335200	Weak transcription	Spleen	Spleen
4	chr12:57328200-57335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57329400-57335200	Weak transcription	A549	lung
6	chr12:57329800-57335000	Weak transcription	NHEK	skin
7	chr12:57330000-57334600	Weak transcription	HMEC	breast
8	chr12:57330000-57335200	Weak transcription	K562	blood
9	chr12:57330200-57335200	Weak transcription	Esophagus	oesophagus

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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