Variant report

Variant	rs938918
Chromosome Location	chr3:43258613-43258614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43254448..43258211-chr3:43258239..43261327,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1034513	1.00[EUR][1000 genomes]
rs10514709	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12486205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12631509	0.84[AMR][1000 genomes]
rs1318453	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075328	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17075340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075391	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075395	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17075409	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17075517	1.00[EUR][1000 genomes]
rs17075521	1.00[EUR][1000 genomes]
rs1878721	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2174636	0.82[AMR][1000 genomes]
rs2372367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580522	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682883	1.00[JPT][hapmap];0.89[MEX][hapmap]
rs6772070	0.82[AMR][1000 genomes]
rs6791526	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6796424	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6798292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6800990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72863603	0.82[AMR][1000 genomes]
rs73086702	1.00[ASN][1000 genomes]
rs73088703	1.00[ASN][1000 genomes]
rs7634209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7647227	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43245000-43258800	Weak transcription	Right Atrium	heart
2	chr3:43247800-43259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:43253200-43262400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:43253400-43259000	Weak transcription	Spleen	Spleen
5	chr3:43256200-43266800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr3:43256200-43267000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:43256600-43260600	Weak transcription	Fetal Kidney	kidney
8	chr3:43256600-43264000	Enhancers	Primary T cells from cord blood	blood
9	chr3:43256800-43261000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:43256800-43264800	Enhancers	Fetal Thymus	thymus
11	chr3:43256800-43264800	Enhancers	Thymus	Thymus
12	chr3:43257000-43260400	Enhancers	NHEK	skin
13	chr3:43257000-43262400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:43257200-43260400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:43257200-43260400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:43257200-43260600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:43257200-43269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:43257400-43266600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:43257800-43259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:43257800-43260000	Weak transcription	Left Ventricle	heart
21	chr3:43257800-43262600	Weak transcription	Pancreas	Pancrea
22	chr3:43258000-43259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:43258200-43259600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:43258400-43258800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:43258400-43259200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:43258600-43259200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:43258600-43259400	Enhancers	Primary neutrophils fromperipheralblood	blood

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