Variant report

Variant	rs1344916
Chromosome Location	chr2:178614102-178614103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178613827..178616533-chr2:178617278..178619906,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10175364	0.95[ASN][1000 genomes]
rs10497489	0.95[EUR][1000 genomes]
rs10930806	0.97[EUR][1000 genomes]
rs11684634	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622125	0.91[ASN][1000 genomes]
rs12987101	0.81[EUR][1000 genomes]
rs12989020	0.81[EUR][1000 genomes]
rs13012431	0.81[EUR][1000 genomes]
rs13031632	0.95[EUR][1000 genomes]
rs13428806	0.82[ASN][1000 genomes]
rs1344917	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344925	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1438037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438038	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438039	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438049	0.80[AFR][1000 genomes]
rs1561319	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561320	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	0.92[ASN][1000 genomes]
rs17400512	0.81[EUR][1000 genomes]
rs1866208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866210	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]
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	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	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952652	0.95[EUR][1000 genomes]
rs3754991	0.91[ASN][1000 genomes]
rs3754993	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]
rs3770028	0.95[EUR][1000 genomes]
rs3770034	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]
rs3821007	0.92[ASN][1000 genomes]
rs4893839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893987	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	0.92[ASN][1000 genomes]
rs6756240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749208	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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:17 , 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	chr2:178610600-178618400	Weak transcription	Right Atrium	heart
5	chr2:178610600-178618400	Weak transcription	Right Ventricle	heart
6	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
7	chr2:178610800-178618400	Weak transcription	Left Ventricle	heart
8	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:178612400-178615200	Weak transcription	Spleen	Spleen
10	chr2:178612600-178615800	Weak transcription	Psoas Muscle	Psoas
11	chr2:178612600-178618200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:178612800-178615200	Weak transcription	HUVEC	blood vessel
13	chr2:178612800-178618200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:178613200-178618200	Weak transcription	K562	blood
15	chr2:178613400-178617800	Weak transcription	Fetal Heart	heart
16	chr2:178613800-178614400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:178614000-178614600	Enhancers	Fetal Kidney	kidney

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