Variant report

Variant	rs998059
Chromosome Location	chr2:178612270-178612271
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1004541	0.82[CHB][hapmap]
rs10175364	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10192481	0.82[CHB][hapmap]
rs10201180	0.82[CHB][hapmap]
rs10497488	0.85[JPT][hapmap]
rs10497489	0.93[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs10930805	0.82[CHB][hapmap]
rs10930806	0.97[EUR][1000 genomes]
rs11684634	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622125	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs12987101	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs12989020	0.81[EUR][1000 genomes]
rs13012431	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs13031632	0.95[EUR][1000 genomes]
rs13428806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];0.82[ASN][1000 genomes]
rs1344916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344917	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344925	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1347731	0.82[CHB][hapmap]
rs1370655	0.85[JPT][hapmap]
rs1370656	0.81[MKK][hapmap]
rs1370662	0.82[CHB][hapmap]
rs1370663	0.82[CHB][hapmap];0.82[MEX][hapmap]
rs1370664	0.82[CHB][hapmap]
rs1438037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438048	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438049	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs1469973	0.82[CHB][hapmap];0.82[MEX][hapmap]
rs1561319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865726	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865764	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs16865769	0.85[JPT][hapmap]
rs17400512	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs1866208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866211	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866212	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898586	0.98[ASN][1000 genomes]
rs1975321	0.82[CHB][hapmap];0.82[MEX][hapmap]
rs1975323	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1975324	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365889	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28700947	0.94[ASN][1000 genomes]
rs28707296	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2886498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952652	0.95[EUR][1000 genomes]
rs3754991	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs3754993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754994	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770023	0.82[CHB][hapmap];0.81[MEX][hapmap]
rs3770028	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs3770034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770042	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770043	0.85[JPT][hapmap]
rs3821007	0.83[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4893839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893980	0.82[CHB][hapmap]
rs4893981	0.82[CHB][hapmap]
rs4893984	0.82[CHB][hapmap]
rs4893985	0.82[CHB][hapmap]
rs4893987	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs56362604	0.98[ASN][1000 genomes]
rs57242051	0.92[ASN][1000 genomes]
rs61334857	0.92[ASN][1000 genomes]
rs6433693	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704720	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs6718702	0.82[CHB][hapmap]
rs6756240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749207	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562835	0.84[JPT][hapmap]
rs7596360	0.82[CHB][hapmap]
rs934798	0.85[JPT][hapmap]
rs934809	0.82[CHB][hapmap]
rs998060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998061	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178603400-178616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:178606000-178617800	Weak transcription	Ovary	ovary
3	chr2:178607400-178614800	Weak transcription	Fetal Lung	lung
4	chr2:178609200-178612800	Enhancers	HUVEC	blood vessel
5	chr2:178609400-178614000	Weak transcription	Fetal Kidney	kidney
6	chr2:178610200-178612800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:178610600-178618400	Weak transcription	Right Atrium	heart
8	chr2:178610600-178618400	Weak transcription	Right Ventricle	heart
9	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
10	chr2:178610800-178618400	Weak transcription	Left Ventricle	heart
11	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:178611800-178612400	Enhancers	Spleen	Spleen
13	chr2:178611800-178612600	Enhancers	Psoas Muscle	Psoas
14	chr2:178612000-178612600	Enhancers	Adipose Nuclei	Adipose
15	chr2:178612000-178613200	Enhancers	K562	blood
16	chr2:178612200-178612600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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