Variant report

Variant	rs1392913
Chromosome Location	chr6:74453656-74453657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10498895	0.88[CEU][hapmap];0.90[AMR][1000 genomes]
rs10805974	0.96[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs10943129	0.90[AMR][1000 genomes]
rs12203043	0.93[GIH][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs12662725	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs1501191	0.81[EUR][1000 genomes]
rs17760906	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs1973480	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs2033736	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes]
rs2047670	0.92[AMR][1000 genomes]
rs2118330	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2118331	0.92[AMR][1000 genomes]
rs2118332	0.92[AMR][1000 genomes]
rs2134016	0.81[EUR][1000 genomes]
rs2164755	0.88[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2173853	0.81[EUR][1000 genomes]
rs2351527	0.89[AMR][1000 genomes]
rs2351528	0.88[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes]
rs35027042	0.81[EUR][1000 genomes]
rs4235875	0.80[EUR][1000 genomes]
rs4342388	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4706555	0.90[AMR][1000 genomes]
rs4706556	0.86[AMR][1000 genomes]
rs4708077	0.86[GIH][hapmap]
rs4708081	0.84[AMR][1000 genomes]
rs4708082	0.88[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.86[AMR][1000 genomes]
rs4708083	0.83[AMR][1000 genomes]
rs4708088	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs5023688	0.88[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes]
rs6453698	0.92[AMR][1000 genomes]
rs6453699	0.91[AMR][1000 genomes]
rs6453700	0.88[CEU][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes]
rs6917630	0.88[AMR][1000 genomes]
rs6918612	0.88[CEU][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes]
rs6921996	0.88[CEU][hapmap];0.90[AMR][1000 genomes]
rs6922211	0.90[AMR][1000 genomes]
rs6923034	0.82[GIH][hapmap]
rs6932012	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs7738437	0.92[AMR][1000 genomes]
rs7742435	0.92[AMR][1000 genomes]
rs7748871	0.86[AMR][1000 genomes]
rs7762080	0.86[AMR][1000 genomes]
rs7762433	0.92[AMR][1000 genomes]
rs7762638	0.86[AMR][1000 genomes]
rs7763367	0.92[AMR][1000 genomes]
rs7771585	0.83[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.92[AMR][1000 genomes]
rs7774119	0.85[GIH][hapmap];0.96[MEX][hapmap]
rs7776411	0.92[AMR][1000 genomes]
rs9293940	0.92[AMR][1000 genomes]
rs9293941	0.88[CEU][hapmap];0.84[LWK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes]
rs9442954	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442955	0.96[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442956	0.93[GIH][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs9442960	0.88[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes]
rs9442961	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes]
rs9442963	0.90[AMR][1000 genomes]
rs9447014	0.92[AMR][1000 genomes]
rs9447015	0.92[AMR][1000 genomes]
rs9447016	0.92[AMR][1000 genomes]
rs9447017	0.87[CEU][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes]
rs9447019	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes]
rs9447025	0.86[AMR][1000 genomes]
rs9447027	0.82[AMR][1000 genomes]
rs9447029	0.92[CEU][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
3	chr6:74425400-74483200	Weak transcription	A549	lung
4	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
5	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:74433000-74456400	Weak transcription	HSMM	muscle
7	chr6:74433400-74456400	Weak transcription	NHLF	lung
8	chr6:74433600-74455000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:74435600-74454600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
11	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
12	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
13	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
14	chr6:74442200-74455800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
18	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:74444400-74455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:74444400-74474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:74445400-74456200	Weak transcription	Osteobl	bone
22	chr6:74446600-74455400	Weak transcription	Fetal Lung	lung
23	chr6:74446800-74454400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:74447200-74456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:74448400-74455800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:74448600-74454400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:74448800-74455800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:74448800-74456400	Weak transcription	Adipose Nuclei	Adipose
29	chr6:74448800-74483400	Weak transcription	NHEK	skin
30	chr6:74450600-74453800	Strong transcription	NHDF-Ad	bronchial
31	chr6:74451200-74454400	Weak transcription	HMEC	breast
32	chr6:74452200-74456200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:74452200-74456600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:74452400-74454800	Enhancers	Colon Smooth Muscle	Colon
35	chr6:74452600-74454200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:74452600-74454600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:74452800-74454000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:74453000-74453800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:74453200-74453800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr6:74453400-74453800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:74453400-74453800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:74453600-74454200	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:74453600-74479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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