Variant report

Variant	rs9475688
Chromosome Location	chr6:56238257-56238258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56234551..56238270-chr6:56238885..56242928,5	MCF-7	breast:
2	chr6:56232157..56234744-chr6:56237947..56240028,2	K562	blood:
3	chr6:56232157..56233682-chr6:56237947..56239453,2	K562	blood:
4	chr6:56236459..56239073-chr6:56241868..56243876,4	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12199257	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204179	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12204391	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12209253	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17224911	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17224995	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225023	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225519	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17225591	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823397	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823553	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883600	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950165	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268580	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459154	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6903698	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6908736	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929337	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929994	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6938343	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7452915	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464380	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464381	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9475677	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9475678	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9475679	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475680	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475682	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9475687	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986501	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56236200-56239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:56236400-56240000	Weak transcription	HSMMtube	muscle
3	chr6:56236600-56239600	Weak transcription	Osteobl	bone
4	chr6:56236600-56239800	Weak transcription	HSMM	muscle
5	chr6:56236600-56239800	Weak transcription	NHDF-Ad	bronchial
6	chr6:56236600-56242800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:56236800-56238800	Weak transcription	Psoas Muscle	Psoas
8	chr6:56236800-56239400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:56236800-56239800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:56236800-56240000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:56237000-56239800	Weak transcription	NHLF	lung
12	chr6:56237000-56240000	Weak transcription	Lung	lung
13	chr6:56237000-56240000	Weak transcription	Pancreas	Pancrea
14	chr6:56237200-56239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:56237200-56239800	Weak transcription	Right Ventricle	heart
16	chr6:56237200-56240000	Weak transcription	Placenta	Placenta
17	chr6:56237400-56239600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:56237400-56239800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:56237400-56240200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:56237600-56239800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:56237600-56239800	Weak transcription	NHEK	skin
22	chr6:56237600-56240200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:56237600-56242200	Weak transcription	HepG2	liver
24	chr6:56237800-56239800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:56237800-56239800	Weak transcription	Fetal Heart	heart
26	chr6:56237800-56239800	Weak transcription	Fetal Intestine Large	intestine
27	chr6:56237800-56239800	Weak transcription	Ovary	ovary
28	chr6:56237800-56239800	Weak transcription	Hela-S3	cervix
29	chr6:56237800-56240000	Weak transcription	Aorta	Aorta
30	chr6:56238000-56238800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:56238000-56238800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:56238000-56239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:56238000-56239000	Weak transcription	Fetal Stomach	stomach
34	chr6:56238000-56239200	Weak transcription	HMEC	breast
35	chr6:56238000-56239600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:56238000-56239600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:56238000-56239600	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:56238000-56239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:56238000-56239800	Weak transcription	Adipose Nuclei	Adipose
40	chr6:56238000-56239800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:56238000-56240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:56238000-56240000	Weak transcription	Fetal Lung	lung
43	chr6:56238000-56240200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:56238000-56240200	Weak transcription	Right Atrium	heart
45	chr6:56238200-56238600	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:56238200-56238600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:56238200-56238600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:56238200-56240000	Weak transcription	Left Ventricle	heart

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