Variant report

Variant	rs1494571
Chromosome Location	chr5:35880087-35880088
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35872234..35875123-chr5:35879832..35882689,2	K562	blood:

Variant related genes	Relation type
ENSG00000168685	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10491434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10491435	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1053496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11567685	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11567699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11567701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11567751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11949736	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11960511	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1382347	1.00[JPT][hapmap]
rs1494554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1603071	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16902573	0.84[EUR][1000 genomes]
rs17376481	1.00[JPT][hapmap]
rs1833907	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2287900	0.84[EUR][1000 genomes]
rs3194051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3822733	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];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4024110	0.80[EUR][1000 genomes]
rs55654952	0.84[EUR][1000 genomes]
rs56133736	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57545288	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62351973	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62355269	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62355271	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62355272	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67207043	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6871116	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6872631	0.85[CEU][hapmap]
rs6893803	0.85[CEU][hapmap]
rs700179	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7702828	0.83[EUR][1000 genomes]
rs7705615	0.84[EUR][1000 genomes]
rs9292614	0.84[CEU][hapmap]
rs9764914	0.84[EUR][1000 genomes]
rs987107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs990716	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
2	chr5:35866600-35882000	Genic enhancers	Dnd41	blood
3	chr5:35873200-35880200	Genic enhancers	Primary T cells from cord blood	blood
4	chr5:35873200-35880200	Genic enhancers	Thymus	Thymus
5	chr5:35875400-35883200	Genic enhancers	Fetal Thymus	thymus
6	chr5:35876600-35884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:35876800-35883600	Weak transcription	Osteobl	bone
8	chr5:35877000-35880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:35877400-35883600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:35877600-35883200	Weak transcription	NHEK	skin
11	chr5:35877800-35881000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:35878000-35881000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:35878000-35882000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:35878000-35882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:35878000-35882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:35878200-35883600	Weak transcription	HSMM	muscle
17	chr5:35878400-35880400	Weak transcription	Hela-S3	cervix
18	chr5:35878400-35882600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:35878800-35880400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:35879000-35880600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:35879000-35881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:35879200-35880200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr5:35879200-35880200	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:35879200-35880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:35879200-35880800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:35879800-35880600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:35879800-35880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:35879800-35881000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:35879800-35883200	Weak transcription	NHLF	lung
30	chr5:35879800-35883800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:35879800-35885000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:35880000-35881000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:35880000-35881400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:35880000-35882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:35880000-35882600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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