Variant report

Variant	rs1990758
Chromosome Location	chr2:56570558-56570559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10183245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10460555	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10460559	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125623	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125624	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11677428	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11677608	0.82[EUR][1000 genomes]
rs11679038	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11683066	0.95[CHB][hapmap]
rs11690074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11902889	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13382999	0.90[EUR][1000 genomes]
rs13386846	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs13390229	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13400915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13403867	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs13404434	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13410910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs13416084	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13416192	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13417930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13427576	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549029	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs17047813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17047815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17047819	0.81[CHD][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs17047821	0.82[EUR][1000 genomes]
rs2032698	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2111473	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2193480	0.82[EUR][1000 genomes]
rs2216330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216331	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56832643	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58363543	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59132151	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62164360	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62164361	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62164363	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62164364	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62167332	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62167333	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62167337	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62167338	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545565	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6751240	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6754471	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6760801	0.83[CHD][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs72916125	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72916129	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72916154	0.84[EUR][1000 genomes]
rs73940663	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73940664	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73940665	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs7591011	0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs7602941	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9309276	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs9309277	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9808063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56562400-56577600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56564800-56574200	Weak transcription	HSMM	muscle
4	chr2:56566400-56572800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:56566400-56575200	Weak transcription	Fetal Heart	heart
6	chr2:56567000-56575200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:56567400-56573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:56568600-56571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56569000-56572800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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