Variant report

Variant	rs259374
Chromosome Location	chr6:147132454-147132455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10457058	1.00[CHB][hapmap];0.87[TSI][hapmap]
rs10457059	1.00[CHB][hapmap]
rs12190780	1.00[CHB][hapmap]
rs12190795	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12191031	1.00[CHB][hapmap]
rs12192840	1.00[JPT][hapmap]
rs12194244	1.00[JPT][hapmap]
rs12208399	0.82[CHB][hapmap];0.90[TSI][hapmap]
rs12208632	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12211372	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12215283	1.00[JPT][hapmap]
rs259375	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs259380	0.97[EUR][1000 genomes]
rs259383	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259387	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs508146	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9497651	1.00[CHB][hapmap];0.87[TSI][hapmap]
rs9497653	1.00[CHB][hapmap]
rs9497654	1.00[CHB][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv966634	chr6:147128760-147141217	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2518343	chr6:147129690-147138004	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3526991	chr6:147130896-147137152	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3526992	chr6:147130896-147137152	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3475079	chr6:147130951-147138090	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3475080	chr6:147130951-147138090	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3329784	chr6:147131018-147137998	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3326141	chr6:147131185-147138244	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147125400-147133600	Weak transcription	K562	blood
2	chr6:147129600-147136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:147130800-147137400	Weak transcription	Placenta	Placenta

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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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