Variant report

Variant	rs4413739
Chromosome Location	chr8:99796898-99796899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10447977	0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10755896	0.83[YRI][hapmap]
rs10955189	0.85[AMR][1000 genomes]
rs10955190	0.83[CHB][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11774463	0.84[AMR][1000 genomes]
rs11778767	0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11780292	0.82[AMR][1000 genomes]
rs11780369	0.82[AMR][1000 genomes]
rs11780500	0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12114834	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12541317	0.95[CHB][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12547297	0.86[AMR][1000 genomes]
rs12549803	0.82[AMR][1000 genomes]
rs12550783	0.83[YRI][hapmap]
rs12679734	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680195	0.82[CHB][hapmap];0.86[AMR][1000 genomes]
rs13269932	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs13275915	0.82[CHB][hapmap];0.90[AMR][1000 genomes]
rs13279438	0.90[AMR][1000 genomes]
rs1447245	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1476181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1961744	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2028975	0.83[EUR][1000 genomes]
rs2442010	0.94[EUR][1000 genomes]
rs2442011	0.86[EUR][1000 genomes]
rs2442012	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442013	0.84[EUR][1000 genomes]
rs2442014	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442015	0.85[YRI][hapmap];0.90[EUR][1000 genomes]
rs2515214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515215	0.94[EUR][1000 genomes]
rs2515216	0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2515219	0.96[EUR][1000 genomes]
rs2515221	0.83[EUR][1000 genomes]
rs2515224	0.92[EUR][1000 genomes]
rs2922066	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2922073	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922074	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2922075	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922076	0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2922078	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922081	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922082	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3019290	0.85[AMR][1000 genomes]
rs3019291	0.85[AMR][1000 genomes]
rs3019293	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34281206	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34366206	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34477118	0.82[AMR][1000 genomes]
rs34855977	0.89[AMR][1000 genomes]
rs35536167	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35798019	0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35804297	0.82[ASN][1000 genomes]
rs35915594	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4131873	0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4255105	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4279561	0.82[CHB][hapmap];0.90[AMR][1000 genomes]
rs4292660	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4304299	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440607	0.90[AMR][1000 genomes]
rs4517094	0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4541872	0.85[AMR][1000 genomes]
rs4549741	0.82[CHB][hapmap];0.90[AMR][1000 genomes]
rs4562286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612309	0.87[AMR][1000 genomes]
rs4734410	0.82[CHB][hapmap];0.86[AMR][1000 genomes]
rs4734417	0.82[AMR][1000 genomes]
rs4735568	0.83[YRI][hapmap]
rs4735569	0.84[YRI][hapmap]
rs4735570	0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs4735571	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4735574	0.89[AMR][1000 genomes]
rs57034072	0.86[AMR][1000 genomes]
rs58321500	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62532565	0.86[AMR][1000 genomes]
rs62532577	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62532587	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62535408	0.81[AMR][1000 genomes]
rs62535410	0.84[AMR][1000 genomes]
rs62535412	0.86[AMR][1000 genomes]
rs6468643	0.80[ASN][1000 genomes]
rs6992925	0.82[CHB][hapmap]
rs7827435	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7838239	0.96[CHB][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7845271	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9656842	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv981968	chr8:99794499-99809509	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99776600-99798600	Weak transcription	Fetal Heart	heart
2	chr8:99776800-99797800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:99795600-99797400	ZNF genes & repeats	GM12878-XiMat	blood
4	chr8:99795800-99797000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr8:99795800-99798600	ZNF genes & repeats	A549	lung
6	chr8:99796000-99797000	Enhancers	Brain Angular Gyrus	brain
7	chr8:99796000-99797400	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr8:99796000-99798800	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr8:99796200-99797000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr8:99796200-99797000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
11	chr8:99796200-99797200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:99796200-99797200	Enhancers	Psoas Muscle	Psoas
13	chr8:99796200-99797400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr8:99796200-99797400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:99796200-99797800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr8:99796200-99797800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:99796200-99797800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr8:99796200-99797800	ZNF genes & repeats	Osteobl	bone
19	chr8:99796200-99798000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:99796200-99798000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr8:99796200-99798000	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr8:99796200-99798000	ZNF genes & repeats	Placenta	Placenta
23	chr8:99796200-99798000	ZNF genes & repeats	Fetal Stomach	stomach
24	chr8:99796200-99798000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:99796200-99798200	ZNF genes & repeats	Dnd41	blood
26	chr8:99796200-99798600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:99796200-99798800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr8:99796200-99799000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:99796200-99799200	ZNF genes & repeats	NHEK	skin
30	chr8:99796400-99797000	Weak transcription	Ovary	ovary
31	chr8:99796400-99797200	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr8:99796400-99797200	ZNF genes & repeats	Gastric	stomach
33	chr8:99796400-99797400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr8:99796400-99797400	ZNF genes & repeats	Fetal Thymus	thymus
35	chr8:99796400-99797400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
36	chr8:99796400-99797400	ZNF genes & repeats	Stomach Mucosa	stomach
37	chr8:99796400-99797600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:99796400-99797600	ZNF genes & repeats	Aorta	Aorta
39	chr8:99796400-99797600	ZNF genes & repeats	Pancreas	Pancrea
40	chr8:99796400-99797800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:99796400-99797800	ZNF genes & repeats	Esophagus	oesophagus
42	chr8:99796400-99797800	ZNF genes & repeats	Thymus	Thymus
43	chr8:99796400-99798000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:99796400-99798000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr8:99796400-99798000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:99796400-99798400	ZNF genes & repeats	Fetal Lung	lung
47	chr8:99796400-99799200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:99796600-99797000	ZNF genes & repeats	Liver	Liver
49	chr8:99796600-99797600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:99796600-99797600	ZNF genes & repeats	Colon Smooth Muscle	Colon

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