Variant report

Variant	rs3012571
Chromosome Location	chr6:74529922-74529923
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74519891..74522735-chr6:74529762..74531758,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1392916	0.80[CHB][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1550227	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866091	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866092	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917857	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917861	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2917862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005482	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005483	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005484	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005485	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005491	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3005496	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3005506	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005537	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012531	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3012544	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];0.99[ASN][1000 genomes]
rs3012562	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3012563	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012570	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012573	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373332	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs974112	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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
2	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
3	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
4	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
2	chr6:74477400-74543400	Weak transcription	Lung	lung
3	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
4	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
6	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:74508600-74533000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:74512600-74534400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:74513200-74530000	Weak transcription	HSMMtube	muscle
11	chr6:74513800-74539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:74514200-74530200	Weak transcription	Liver	Liver
13	chr6:74514200-74535400	Weak transcription	NHLF	lung
14	chr6:74514200-74542800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:74514400-74533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:74514400-74534400	Weak transcription	Hela-S3	cervix
17	chr6:74514400-74545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:74514400-74546200	Weak transcription	HSMM	muscle
19	chr6:74516400-74535000	Strong transcription	NHDF-Ad	bronchial
20	chr6:74516600-74532800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:74521000-74530600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:74521800-74536000	Weak transcription	Left Ventricle	heart
23	chr6:74521800-74541800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:74521800-74545200	Weak transcription	Osteobl	bone
25	chr6:74522800-74531000	Weak transcription	Fetal Heart	heart
26	chr6:74524400-74532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:74524600-74535000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:74524800-74531600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:74524800-74531600	Strong transcription	HMEC	breast
30	chr6:74525000-74531000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:74525200-74531800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:74525200-74535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:74525400-74532200	Strong transcription	HUVEC	blood vessel
34	chr6:74525600-74531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:74525600-74531600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:74526000-74535600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:74526400-74542200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:74526400-74565000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:74526600-74535600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:74526800-74533200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:74527600-74532800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:74527800-74541000	Weak transcription	Esophagus	oesophagus
43	chr6:74528600-74530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:74528600-74557000	Weak transcription	Primary T cells from cord blood	blood
45	chr6:74529600-74531600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:74529800-74530800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:74529800-74531200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:74529800-74531200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:74529800-74531200	Strong transcription	NHEK	skin

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