Variant report

Variant	rs4693125
Chromosome Location	chr4:86666893-86666894
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	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10004914	1.00[AMR][1000 genomes]
rs10017673	1.00[AMR][1000 genomes]
rs10018270	1.00[AMR][1000 genomes]
rs10024305	1.00[AMR][1000 genomes]
rs11097067	1.00[AMR][1000 genomes]
rs11941635	0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13110649	0.88[LWK][hapmap];0.84[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1482086	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28384086	1.00[AMR][1000 genomes]
rs28397866	1.00[AMR][1000 genomes]
rs28413133	1.00[AMR][1000 genomes]
rs28421282	1.00[AMR][1000 genomes]
rs28478283	1.00[AMR][1000 genomes]
rs28481580	1.00[AMR][1000 genomes]
rs28482943	1.00[AMR][1000 genomes]
rs28503231	1.00[AMR][1000 genomes]
rs28510473	1.00[AMR][1000 genomes]
rs28528165	1.00[AMR][1000 genomes]
rs28582783	1.00[AMR][1000 genomes]
rs28625743	1.00[AMR][1000 genomes]
rs28646131	1.00[AMR][1000 genomes]
rs28655099	1.00[AMR][1000 genomes]
rs28734976	1.00[AMR][1000 genomes]
rs28809183	1.00[AMR][1000 genomes]
rs28843174	1.00[AMR][1000 genomes]
rs343857	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343861	0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343862	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343863	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343865	0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4292320	0.86[AFR][1000 genomes]
rs4315779	0.88[MKK][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs4343717	1.00[AMR][1000 genomes]
rs4362811	1.00[AMR][1000 genomes]
rs6531853	1.00[AMR][1000 genomes]
rs6531855	1.00[AMR][1000 genomes]
rs6531857	0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs6531858	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6531859	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6531860	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812584	0.83[YRI][hapmap]
rs6829248	1.00[AMR][1000 genomes]
rs7376882	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7659017	0.84[MKK][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7674538	1.00[AMR][1000 genomes]
rs7682809	1.00[AMR][1000 genomes]
rs9997347	1.00[AMR][1000 genomes]
rs9999508	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv526211	chr4:86666893-86677107	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:86661600-86667200	Enhancers	A549	lung
4	chr4:86662200-86669200	Weak transcription	NH-A	brain
5	chr4:86663200-86667000	Weak transcription	Small Intestine	intestine
6	chr4:86663400-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
8	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:86663600-86667000	Weak transcription	Pancreas	Pancrea
10	chr4:86663800-86669200	Weak transcription	Fetal Heart	heart
11	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:86664400-86673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:86664600-86667400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:86665000-86667000	Weak transcription	Brain Substantia Nigra	brain
15	chr4:86665000-86667800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:86665000-86670200	Weak transcription	GM12878-XiMat	blood
17	chr4:86665000-86672800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:86665000-86674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:86665200-86667000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:86665200-86667200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:86665200-86667200	Weak transcription	Stomach Mucosa	stomach
22	chr4:86665200-86669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:86665400-86669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:86665600-86667000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:86665600-86675600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:86665800-86667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:86665800-86673200	Weak transcription	Right Ventricle	heart
28	chr4:86666000-86667000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:86666000-86667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:86666000-86667400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:86666200-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:86666200-86669800	Weak transcription	NHDF-Ad	bronchial
34	chr4:86666200-86670000	Weak transcription	HSMMtube	muscle
35	chr4:86666400-86669000	Weak transcription	Osteobl	bone
36	chr4:86666400-86669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:86666600-86667200	Enhancers	Right Atrium	heart
38	chr4:86666800-86667200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:86666800-86667400	Enhancers	HSMM	muscle
40	chr4:86666800-86667600	Enhancers	Primary B cells from cord blood	blood

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