Variant report

Variant	rs6764648
Chromosome Location	chr3:43040813-43040814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10212191	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10510736	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13080201	0.83[CHB][hapmap]
rs13087788	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs17390473	0.84[CHB][hapmap]
rs17455509	0.83[CHB][hapmap]
rs17455760	0.84[CHB][hapmap]
rs17469719	0.83[CHB][hapmap]
rs2001682	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2062517	0.89[CHB][hapmap]
rs28435122	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28548208	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2948619	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35110063	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3953390	0.89[EUR][1000 genomes]
rs531888	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs532792	0.93[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55701670	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62247060	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62247061	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62247062	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442134	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644534	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6783218	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes]
rs6792817	0.82[EUR][1000 genomes]
rs6793871	0.88[CEU][hapmap];0.92[CHB][hapmap];0.86[EUR][1000 genomes]
rs6794402	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6806427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs704918	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7616750	0.84[CHB][hapmap]
rs7619227	0.84[CHB][hapmap]
rs7624799	0.83[CHB][hapmap]
rs7633590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634125	0.84[CHB][hapmap]
rs7637698	0.84[CHB][hapmap]
rs7643433	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs834177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs872126	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9311332	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9812262	0.80[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes]
rs9821320	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848904	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9858123	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9863179	0.88[EUR][1000 genomes]
rs9872107	0.85[EUR][1000 genomes]
rs9874514	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43034200-43043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:43037200-43044200	Enhancers	Fetal Muscle Leg	muscle
3	chr3:43037800-43044600	Enhancers	Liver	Liver
4	chr3:43038400-43043400	Enhancers	Brain Substantia Nigra	brain
5	chr3:43038800-43042400	Weak transcription	Lung	lung
6	chr3:43039200-43041000	Enhancers	Spleen	Spleen
7	chr3:43039400-43042400	Weak transcription	Right Ventricle	heart
8	chr3:43039600-43043200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:43039800-43044200	Enhancers	Brain Hippocampus Middle	brain
10	chr3:43040000-43043600	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:43040000-43044600	Enhancers	Fetal Stomach	stomach
12	chr3:43040200-43041200	Enhancers	Right Atrium	heart
13	chr3:43040200-43043400	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:43040200-43043400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:43040200-43044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:43040400-43041800	Enhancers	Fetal Brain Male	brain
17	chr3:43040400-43043200	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:43040400-43044000	Enhancers	Fetal Lung	lung
19	chr3:43040600-43041200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:43040600-43042400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:43040600-43043000	Enhancers	Colon Smooth Muscle	Colon
22	chr3:43040600-43043400	Enhancers	Brain Angular Gyrus	brain
23	chr3:43040800-43041000	Enhancers	Esophagus	oesophagus
24	chr3:43040800-43041000	Enhancers	Fetal Intestine Large	intestine
25	chr3:43040800-43041000	Enhancers	Left Ventricle	heart
26	chr3:43040800-43041000	Enhancers	Stomach Mucosa	stomach
27	chr3:43040800-43041200	Enhancers	Placenta	Placenta
28	chr3:43040800-43041200	Enhancers	Pancreas	Pancrea
29	chr3:43040800-43041400	Enhancers	Brain Anterior Caudate	brain
30	chr3:43040800-43041400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:43040800-43041800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr3:43040800-43041800	Enhancers	Psoas Muscle	Psoas
33	chr3:43040800-43042400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:43040800-43042600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:43040800-43042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:43040800-43043000	Enhancers	Adipose Nuclei	Adipose
37	chr3:43040800-43043800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:43040800-43044200	Enhancers	Ovary	ovary

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