Variant report

Variant	rs13110649
Chromosome Location	chr4:86682780-86682781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13108185	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs1452678	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs1482086	0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes]
rs189357	1.00[AMR][1000 genomes]
rs2601858	0.80[ASW][hapmap]
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]
rs2869383	0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs28734976	1.00[AMR][1000 genomes]
rs28809183	1.00[AMR][1000 genomes]
rs28843174	1.00[AMR][1000 genomes]
rs343850	0.82[ASW][hapmap]
rs343857	1.00[AMR][1000 genomes]
rs343858	1.00[AMR][1000 genomes]
rs343861	1.00[AMR][1000 genomes]
rs343862	0.85[LWK][hapmap];0.82[MKK][hapmap];1.00[AMR][1000 genomes]
rs343863	0.85[LWK][hapmap];1.00[AMR][1000 genomes]
rs343865	1.00[AMR][1000 genomes]
rs4315779	1.00[AMR][1000 genomes]
rs4343717	1.00[AMR][1000 genomes]
rs4362811	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4693125	0.88[LWK][hapmap];0.84[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6531853	1.00[AMR][1000 genomes]
rs6531855	1.00[AMR][1000 genomes]
rs6531857	1.00[AMR][1000 genomes]
rs6531858	0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes]
rs6531859	0.84[LWK][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes]
rs6531860	1.00[AMR][1000 genomes]
rs6812584	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6829248	1.00[AMR][1000 genomes]
rs7376882	1.00[AMR][1000 genomes]
rs7659017	1.00[AMR][1000 genomes]
rs7674538	1.00[AMR][1000 genomes]
rs7682809	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9993320	0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs9997347	1.00[AMR][1000 genomes]
rs9999508	1.00[AMR][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	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	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
3	chr4:86673400-86683400	Weak transcription	HSMM	muscle
4	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
5	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:86676200-86683000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:86676400-86682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:86676600-86682800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:86678200-86682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:86678200-86685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:86678400-86682800	Weak transcription	Right Atrium	heart
13	chr4:86679000-86684600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:86680400-86682800	Enhancers	HUVEC	blood vessel
15	chr4:86680400-86683400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:86680400-86685600	Enhancers	Osteobl	bone
17	chr4:86680600-86682800	Enhancers	NHLF	lung
18	chr4:86680600-86683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:86680600-86683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:86681000-86684800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:86681600-86683200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:86681600-86683800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:86681600-86684800	Enhancers	Fetal Stomach	stomach
24	chr4:86681800-86682800	Enhancers	Stomach Smooth Muscle	stomach
25	chr4:86681800-86683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:86681800-86683000	Enhancers	Ovary	ovary
27	chr4:86681800-86683000	Enhancers	Pancreas	Pancrea
28	chr4:86681800-86683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:86681800-86684600	Enhancers	Adipose Nuclei	Adipose
30	chr4:86681800-86684800	Enhancers	Fetal Muscle Leg	muscle
31	chr4:86682000-86683200	Strong transcription	Primary B cells from cord blood	blood
32	chr4:86682000-86684400	Weak transcription	Small Intestine	intestine
33	chr4:86682000-86685200	Enhancers	NHDF-Ad	bronchial
34	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
35	chr4:86682200-86684000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:86682400-86683000	Flanking Active TSS	Fetal Lung	lung
37	chr4:86682400-86683200	Enhancers	Spleen	Spleen
38	chr4:86682400-86684000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:86682600-86684000	Enhancers	Skeletal Muscle Male	skeletal muscle

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