Variant report

Variant	rs4440487
Chromosome Location	chr6:128502156-128502157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10485162	0.85[CHD][hapmap]
rs10499137	1.00[JPT][hapmap]
rs10499138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10872329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11961776	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11962214	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11962916	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11965115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11967302	1.00[ASN][1000 genomes]
rs11968433	0.85[CHD][hapmap]
rs12110357	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12110728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1339188	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1538498	1.00[CEU][hapmap]
rs1543376	1.00[CEU][hapmap]
rs17055270	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs17055274	1.00[JPT][hapmap]
rs17055300	0.82[ASN][1000 genomes]
rs17055360	0.82[ASN][1000 genomes]
rs17055365	0.82[ASN][1000 genomes]
rs17055391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17055403	0.82[ASN][1000 genomes]
rs17055412	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17055415	0.82[ASN][1000 genomes]
rs17055421	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17055445	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs17055450	1.00[CEU][hapmap]
rs17055452	1.00[CEU][hapmap]
rs17055628	1.00[CEU][hapmap]
rs17055630	1.00[CEU][hapmap]
rs17055679	1.00[CEU][hapmap]
rs1738283	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1738288	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1738290	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1768346	0.80[EUR][1000 genomes]
rs1768347	1.00[CEU][hapmap]
rs1768353	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1768357	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1856498	0.80[EUR][1000 genomes]
rs3923033	1.00[ASN][1000 genomes]
rs4072328	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41439546	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4496822	1.00[JPT][hapmap]
rs4498385	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4895830	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4897244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4897245	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4897246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4897247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4897248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4897249	0.82[ASN][1000 genomes]
rs4897250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6904354	1.00[ASN][1000 genomes]
rs6909380	0.82[ASN][1000 genomes]
rs6913718	1.00[CEU][hapmap]
rs6913738	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6918772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6928143	1.00[CEU][hapmap]
rs6929394	0.82[ASN][1000 genomes]
rs6929623	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6935188	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6938199	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73586607	1.00[ASN][1000 genomes]
rs73586609	1.00[ASN][1000 genomes]
rs73586611	1.00[ASN][1000 genomes]
rs73586613	1.00[ASN][1000 genomes]
rs73588647	1.00[ASN][1000 genomes]
rs73590658	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7746783	1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7751187	1.00[JPT][hapmap]
rs7754321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755836	1.00[CEU][hapmap]
rs7768121	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7769070	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7772200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7772941	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7773849	1.00[CEU][hapmap]
rs7776405	1.00[CEU][hapmap]
rs9388626	1.00[CEU][hapmap]
rs9402024	1.00[CEU][hapmap]
rs9784880	1.00[CEU][hapmap]
rs981998	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128452600-128505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:128461400-128504400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:128465600-128504400	Weak transcription	Fetal Thymus	thymus
4	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
5	chr6:128477800-128504200	Weak transcription	HSMM	muscle
6	chr6:128488200-128508000	Weak transcription	Aorta	Aorta
7	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
8	chr6:128489000-128507800	Weak transcription	NHLF	lung
9	chr6:128489600-128505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:128489800-128504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:128489800-128514200	Weak transcription	Gastric	stomach
12	chr6:128490000-128511600	Weak transcription	Pancreas	Pancrea
13	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128492600-128504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:128492600-128567800	Weak transcription	Ovary	ovary
16	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128494800-128504400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:128494800-128504600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:128495000-128504200	Weak transcription	HMEC	breast
20	chr6:128495000-128504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:128495000-128504800	Weak transcription	Osteobl	bone
22	chr6:128495000-128505400	Weak transcription	NH-A	brain
23	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
24	chr6:128495600-128504600	Weak transcription	NHEK	skin
25	chr6:128495800-128504400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:128495800-128504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:128496200-128504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:128496400-128505800	Weak transcription	Fetal Heart	heart
29	chr6:128496600-128504600	Weak transcription	HepG2	liver
30	chr6:128496800-128505200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:128498000-128507200	Weak transcription	Thymus	Thymus
32	chr6:128498600-128508000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:128498800-128504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:128498800-128505000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:128499800-128513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:128500800-128502800	Enhancers	Liver	Liver
37	chr6:128501400-128508400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:128501600-128504400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:128501600-128504600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:128501600-128510000	Weak transcription	Brain Substantia Nigra	brain
41	chr6:128501800-128504400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:128501800-128505000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:128501800-128505000	Weak transcription	Adipose Nuclei	Adipose
44	chr6:128501800-128505000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:128501800-128505400	Weak transcription	Fetal Lung	lung
46	chr6:128501800-128513000	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:128502000-128504200	Weak transcription	Primary B cells from cord blood	blood

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