Variant report

Variant	rs4987396
Chromosome Location	chr1:169670868-169670869
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	chr1:169669179..169671320-chr1:169675894..169677671,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12742961	1.00[JPT][hapmap]
rs2223286	0.85[JPT][hapmap]
rs2272819	0.97[EUR][1000 genomes]
rs2272917	1.00[JPT][hapmap]
rs2272918	1.00[JPT][hapmap]
rs3917458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3917460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4987347	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4987352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987353	0.85[JPT][hapmap]
rs4987357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987367	0.85[JPT][hapmap]
rs4987369	0.85[JPT][hapmap]
rs4987373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs4987377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987397	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56747461	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60909528	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv872539	chr1:169658586-169674590	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv872540	chr1:169667355-169671088	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169662400-169676000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:169663200-169674000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:169664000-169673400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:169664000-169674000	Genic enhancers	Fetal Thymus	thymus
6	chr1:169664000-169674200	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:169666200-169671600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:169666200-169673800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169667600-169673600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:169667600-169676800	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:169668000-169677400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
12	chr1:169668800-169671000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169669400-169673000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:169669600-169672000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr1:169669600-169672000	Enhancers	Thymus	Thymus
16	chr1:169669600-169672800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:169669600-169674400	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr1:169670000-169671000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:169670000-169671000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:169670000-169671000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:169670000-169671200	Genic enhancers	Dnd41	blood
22	chr1:169670000-169673600	Weak transcription	GM12878-XiMat	blood
23	chr1:169670200-169673200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:169670400-169671000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
25	chr1:169670600-169678000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr1:169670800-169671200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:169670800-169671200	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
28	chr1:169670800-169671200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:169670800-169672800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood

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