Variant report

Variant	rs4708083
Chromosome Location	chr6:74502791-74502792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74502515..74505275-chr6:74506661..74508653,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10498895	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10943129	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392913	0.83[AMR][1000 genomes]
rs17760906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973480	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033736	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047670	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2118330	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2118331	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2118332	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2164755	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2351527	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2351528	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4706555	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4706556	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708081	0.83[AMR][1000 genomes]
rs4708082	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4708088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5023688	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453698	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6453699	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6453700	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917630	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6918612	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921996	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6922211	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738437	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7742435	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7748237	0.90[ASN][1000 genomes]
rs7748871	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7762080	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7762433	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7762638	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7763367	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7771585	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7776411	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9293940	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9293941	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9442960	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9442961	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9442963	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9447014	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9447015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9447016	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9447017	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9447019	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9447025	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9447027	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447029	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:55 , 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	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
6	chr6:74477400-74543400	Weak transcription	Lung	lung
7	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
11	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
12	chr6:74484800-74512600	Weak transcription	HSMM	muscle
13	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
17	chr6:74490600-74503600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
21	chr6:74492400-74510800	Weak transcription	A549	lung
22	chr6:74492600-74504600	Weak transcription	Stomach Mucosa	stomach
23	chr6:74494000-74505400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:74494400-74502800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
26	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
28	chr6:74496800-74528800	Weak transcription	Dnd41	blood
29	chr6:74497000-74505200	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr6:74498800-74502800	Weak transcription	Adipose Nuclei	Adipose
31	chr6:74499000-74507000	Weak transcription	NHLF	lung
32	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
33	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:74499200-74505400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:74499200-74520200	Weak transcription	NHEK	skin
36	chr6:74499600-74506600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:74499800-74503800	Strong transcription	HMEC	breast
38	chr6:74499800-74505800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:74500200-74503400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:74500200-74505800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:74500200-74505800	Strong transcription	NHDF-Ad	bronchial
42	chr6:74500600-74506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
45	chr6:74501200-74503000	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:74501200-74508000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:74502000-74503200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr6:74502000-74503400	Strong transcription	Left Ventricle	heart

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