Variant report

Variant	rs1876595
Chromosome Location	chr2:142528148-142528149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1009398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10183908	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs10460250	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10496896	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496898	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11679158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12474491	0.85[CEU][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs13412865	0.82[CEU][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap]
rs13416257	0.87[CHB][hapmap]
rs1437345	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1595318	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16847120	0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs1898425	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1975286	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2009263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2381153	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs28529494	0.82[ASN][1000 genomes]
rs4996425	0.83[ASN][1000 genomes]
rs6720157	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap]
rs752451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558916	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap]
rs7591783	1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs7594617	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs7598314	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs974974	0.95[CHB][hapmap];0.89[CHD][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	nsv834394	chr2:142430225-142593264	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv459663	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv583236	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1004379	chr2:142514657-142547597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv875246	chr2:142527100-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv875247	chr2:142527100-142569099	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv875248	chr2:142527100-142572590	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv875249	chr2:142527100-142614345	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142525000-142530200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:142527200-142528400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:142527200-142528400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:142527200-142528600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:142527200-142528600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:142527400-142530200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:142527800-142528200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:142528000-142528400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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