Variant report

Variant	rs62431065
Chromosome Location	chr6:140394185-140394186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140259101..140260613-chr6:140392985..140394569,2	K562	blood:
2	chr6:140392899..140394946-chr6:140602471..140604861,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10499216	0.88[ASN][1000 genomes]
rs10499219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1113096	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11966793	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11967431	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11969633	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12523886	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12525793	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12526277	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12528420	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12529701	0.86[EUR][1000 genomes]
rs12529729	0.81[AMR][1000 genomes]
rs12529920	0.86[EUR][1000 genomes]
rs1390500	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1496114	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17069706	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17069710	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17069727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17069741	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17069805	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17069893	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1879097	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2050716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2328026	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57789174	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59447713	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60747543	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62429521	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62429525	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62431062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62431064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62431066	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62431098	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62431099	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62431110	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62431142	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6915764	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732015	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73571530	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7770431	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1019508	chr6:140317472-140434466	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1022987	chr6:140344229-140463916	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140390000-140395400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:140390000-140395400	Enhancers	NHDF-Ad	bronchial
3	chr6:140390200-140395400	Enhancers	NHLF	lung
4	chr6:140390400-140395000	Enhancers	Osteobl	bone
5	chr6:140390800-140394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:140391200-140395000	Enhancers	Fetal Lung	lung
7	chr6:140391400-140395000	Enhancers	Hela-S3	cervix
8	chr6:140391600-140395200	Enhancers	Rectal Smooth Muscle	rectum
9	chr6:140391800-140394400	Enhancers	Adipose Nuclei	Adipose
10	chr6:140391800-140395000	Enhancers	Fetal Brain Male	brain
11	chr6:140393000-140394600	Weak transcription	Aorta	Aorta
12	chr6:140393000-140394800	Weak transcription	Fetal Stomach	stomach
13	chr6:140393000-140395000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:140393000-140399200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:140393000-140399200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:140393000-140399200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:140393000-140399400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:140393000-140400000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:140393000-140400400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:140393000-140400600	Weak transcription	Ovary	ovary
21	chr6:140393200-140394200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:140393400-140394200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:140393400-140395200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:140393600-140394200	Weak transcription	Liver	Liver
25	chr6:140393600-140394400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:140393600-140395000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:140393600-140396200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:140393600-140398800	Weak transcription	Fetal Heart	heart
29	chr6:140393600-140400400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:140393800-140394800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:140393800-140399000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:140393800-140399000	Weak transcription	NH-A	brain
33	chr6:140393800-140399200	Weak transcription	Fetal Kidney	kidney
34	chr6:140394000-140394200	Enhancers	Fetal Brain Female	brain
35	chr6:140394000-140395200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:140394000-140398800	Weak transcription	HUVEC	blood vessel
37	chr6:140394000-140400000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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