Variant report

Variant	rs3005482
Chromosome Location	chr6:74521194-74521195
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: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1392916	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1550227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866091	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866092	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917857	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917859	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917860	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2917861	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917862	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917893	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005484	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005485	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3005496	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3005506	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005509	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005510	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005527	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005537	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005538	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3012531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3012544	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3012562	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3012563	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3012570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3012571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3012573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974112	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74477400-74543400	Weak transcription	Lung	lung
4	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
5	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
6	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
8	chr6:74496800-74528800	Weak transcription	Dnd41	blood
9	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
10	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
13	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
15	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:74508600-74533000	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:74511000-74527200	Weak transcription	Fetal Lung	lung
19	chr6:74512600-74534400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:74513200-74530000	Weak transcription	HSMMtube	muscle
21	chr6:74513800-74539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:74514000-74521200	Weak transcription	A549	lung
23	chr6:74514200-74523200	Weak transcription	NH-A	brain
24	chr6:74514200-74530200	Weak transcription	Liver	Liver
25	chr6:74514200-74535400	Weak transcription	NHLF	lung
26	chr6:74514200-74542800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:74514400-74522000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:74514400-74533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:74514400-74534400	Weak transcription	Hela-S3	cervix
30	chr6:74514400-74545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:74514400-74546200	Weak transcription	HSMM	muscle
32	chr6:74516200-74529800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:74516400-74523800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:74516400-74535000	Strong transcription	NHDF-Ad	bronchial
35	chr6:74516600-74532800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:74519600-74522200	Strong transcription	HMEC	breast
37	chr6:74519600-74523200	Strong transcription	HUVEC	blood vessel
38	chr6:74520200-74521200	Strong transcription	NHEK	skin
39	chr6:74520200-74522000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:74520200-74522200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:74520400-74521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:74520400-74522000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:74520400-74522000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:74520600-74521800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:74520600-74522000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:74520600-74522000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:74520600-74522000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:74520600-74524200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr6:74520800-74521400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr6:74520800-74521800	Strong transcription	Adipose Nuclei	Adipose

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