Variant report

Variant	rs4510853
Chromosome Location	chr8:62458295-62458296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10086389	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs10086644	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs10090754	0.83[CHB][hapmap]
rs10097222	0.83[CHB][hapmap]
rs10101416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106575	0.91[ASN][1000 genomes]
rs10106775	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10109999	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111010	0.82[ASN][1000 genomes]
rs10113272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11984530	0.99[ASN][1000 genomes]
rs1320081	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs13253460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532255	0.82[ASN][1000 genomes]
rs16927435	0.84[CHB][hapmap]
rs16927440	0.83[CHB][hapmap]
rs16927444	0.83[CHB][hapmap]
rs16927449	0.90[JPT][hapmap]
rs16927470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927479	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968990	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2101707	0.81[ASN][1000 genomes]
rs2350617	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2350618	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2350619	0.84[CHB][hapmap]
rs2640235	0.81[ASN][1000 genomes]
rs2640239	0.91[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2640241	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs34344679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802286	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs3824269	0.84[CHB][hapmap]
rs3922836	0.99[ASN][1000 genomes]
rs4400380	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs4416815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4512374	0.84[CHB][hapmap]
rs4537294	0.98[ASN][1000 genomes]
rs4737587	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737589	0.83[CHB][hapmap]
rs4738905	0.83[CHB][hapmap]
rs4738909	0.84[CHB][hapmap]
rs61397046	0.93[ASN][1000 genomes]
rs6471958	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs67210846	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6984604	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs6987566	0.84[CHB][hapmap]
rs6992187	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7005455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7011243	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7013189	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7462486	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7819628	0.88[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7823286	0.81[ASN][1000 genomes]
rs7825172	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839203	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7839363	0.87[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7840370	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
5	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
9	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
10	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
11	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
13	chr8:62440600-62462800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:62440800-62463000	Weak transcription	Pancreas	Pancrea
15	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:62446000-62461600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:62449400-62461600	Strong transcription	NH-A	brain
18	chr8:62449800-62463000	Weak transcription	Lung	lung
19	chr8:62449800-62463200	Weak transcription	HUVEC	blood vessel
20	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:62451400-62467000	Weak transcription	Placenta	Placenta
22	chr8:62451600-62459000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:62451600-62473200	Weak transcription	Fetal Kidney	kidney
24	chr8:62452600-62458400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:62452600-62469600	Strong transcription	HSMM	muscle
26	chr8:62452800-62459000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:62452800-62459600	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr8:62453400-62458600	Weak transcription	Ovary	ovary
29	chr8:62453400-62466400	Weak transcription	Gastric	stomach
30	chr8:62453400-62480200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:62453600-62458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62453600-62463400	Weak transcription	Fetal Stomach	stomach
34	chr8:62454200-62458800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr8:62454400-62460800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:62454400-62468400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:62454600-62461600	Strong transcription	NHDF-Ad	bronchial
38	chr8:62455600-62458800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:62455600-62461000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:62455600-62461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:62455600-62461600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:62456000-62460200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr8:62456000-62460800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:62456000-62461600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
47	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:62456200-62461400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:62456200-62474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:62456400-62468800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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