Variant report

Variant	rs10954596
Chromosome Location	chr7:137694764-137694765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10243728	0.80[AMR][1000 genomes]
rs10954597	0.81[CEU][hapmap];0.99[EUR][1000 genomes]
rs11769891	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11972734	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13232124	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424376	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2113439	0.81[CEU][hapmap]
rs34080447	0.81[AMR][1000 genomes]
rs34394140	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34469503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34970488	0.89[EUR][1000 genomes]
rs35508415	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35556241	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56083840	0.85[EUR][1000 genomes]
rs713470	0.81[CEU][hapmap]
rs713471	0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137687000-137700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:137688000-137699600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:137688000-137703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:137693400-137694800	Enhancers	Liver	Liver
5	chr7:137693400-137694800	Enhancers	Osteobl	bone
6	chr7:137693400-137695000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:137693600-137700200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:137693800-137694800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:137693800-137694800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:137693800-137695000	Enhancers	HepG2	liver
11	chr7:137694000-137694800	Enhancers	HSMM	muscle
12	chr7:137694200-137696400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:137694200-137699200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:137694200-137699800	Weak transcription	Primary B cells from peripheral blood	blood

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

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