Variant report

Variant	rs6939653
Chromosome Location	chr6:74474770-74474771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10455097	0.82[GIH][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10943125	0.85[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943130	0.94[CHB][hapmap];0.80[AMR][1000 genomes]
rs10943131	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs11757360	0.80[AMR][1000 genomes]
rs12189952	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs12209909	0.87[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs12660627	0.80[AMR][1000 genomes]
rs12663978	0.80[AMR][1000 genomes]
rs13199198	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1973482	0.90[CHB][hapmap]
rs2351311	0.85[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4706554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708084	0.80[AMR][1000 genomes]
rs4708085	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs4708086	0.90[CHB][hapmap];0.80[AMR][1000 genomes]
rs4708087	0.80[AMR][1000 genomes]
rs6453696	0.80[EUR][1000 genomes]
rs6903575	0.80[AMR][1000 genomes]
rs6907989	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs6908109	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs6909201	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6918540	0.80[EUR][1000 genomes]
rs6925924	0.80[AMR][1000 genomes]
rs71309314	0.80[AMR][1000 genomes]
rs7745364	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs7749499	0.80[AMR][1000 genomes]
rs7751523	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs7751558	0.89[CHB][hapmap];0.80[AMR][1000 genomes]
rs7751669	0.90[CHB][hapmap];0.80[AMR][1000 genomes]
rs7751758	0.80[AMR][1000 genomes]
rs7762920	0.80[AMR][1000 genomes]
rs7763030	0.80[AMR][1000 genomes]
rs7763254	0.80[AMR][1000 genomes]
rs7772434	0.80[AMR][1000 genomes]
rs7773872	0.80[AMR][1000 genomes]
rs7775539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293939	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293942	0.81[AMR][1000 genomes]
rs9293944	0.80[AMR][1000 genomes]
rs9343072	0.80[EUR][1000 genomes]
rs9343075	0.81[EUR][1000 genomes]
rs9343078	0.80[EUR][1000 genomes]
rs9442959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442968	0.86[CHB][hapmap];0.82[GIH][hapmap];0.80[AMR][1000 genomes]
rs9447004	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9447010	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447030	0.90[CHB][hapmap];0.80[AMR][1000 genomes]
rs997765	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs997767	0.80[AMR][1000 genomes]

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	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv527906	chr6:74468860-74475047	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv528148	chr6:74468860-74493432	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
2	chr6:74425400-74483200	Weak transcription	A549	lung
3	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
5	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
6	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
8	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:74448800-74483400	Weak transcription	NHEK	skin
10	chr6:74453600-74479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:74456800-74483800	Weak transcription	NHLF	lung
12	chr6:74457200-74484000	Weak transcription	Adipose Nuclei	Adipose
13	chr6:74457400-74475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:74457800-74477600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:74465200-74484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:74467400-74486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:74468000-74492200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:74469800-74475600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:74469800-74483600	Weak transcription	Fetal Lung	lung
20	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:74470000-74475200	Weak transcription	HSMM	muscle
22	chr6:74470200-74484000	Weak transcription	Right Ventricle	heart
23	chr6:74471400-74483800	Weak transcription	NH-A	brain
24	chr6:74471800-74486600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:74472000-74482800	Strong transcription	NHDF-Ad	bronchial
26	chr6:74472200-74481800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:74472400-74475600	Weak transcription	Osteobl	bone
28	chr6:74472600-74476200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:74472600-74477600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:74472600-74481800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:74472800-74479800	Strong transcription	HMEC	breast
32	chr6:74473000-74477800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:74473000-74481600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:74473200-74483600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:74473400-74476000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr6:74473400-74478200	Weak transcription	HUVEC	blood vessel
37	chr6:74473600-74475600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:74473600-74477400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:74474000-74475400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:74474000-74483800	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:74474000-74489400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:74474200-74478200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:74474200-74484000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:74474600-74476000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:74474600-74476000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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