Variant report

Variant	rs60268580
Chromosome Location	chr6:56237867-56237868
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	chr6:56233618..56238024-chr6:56405386..56408602,4	MCF-7	breast:
3	chr6:56236459..56239073-chr6:56241868..56243876,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

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

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

rs_ID	r²[population]
rs12199257	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204179	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12204391	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12209253	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17224911	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17224995	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225023	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225519	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17225591	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823397	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823553	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883600	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950165	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459154	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6903698	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6908736	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929337	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929994	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6938343	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7452915	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464380	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464381	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9475677	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9475678	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9475679	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475680	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475682	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9475687	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475688	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986501	0.90[AMR][1000 genomes];0.94[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56231000-56238000	Enhancers	Adipose Nuclei	Adipose
2	chr6:56231000-56238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:56234800-56238000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:56234800-56238000	Enhancers	Fetal Muscle Leg	muscle
5	chr6:56234800-56238000	Enhancers	Fetal Stomach	stomach
6	chr6:56235000-56238000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:56235000-56238000	Enhancers	Fetal Lung	lung
8	chr6:56235200-56238200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:56235400-56238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:56235400-56238000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:56235800-56238000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:56235800-56238000	Enhancers	Right Atrium	heart
13	chr6:56235800-56238000	Enhancers	HMEC	breast
14	chr6:56236000-56238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:56236000-56238000	Enhancers	HUVEC	blood vessel
16	chr6:56236200-56238000	Enhancers	Fetal Thymus	thymus
17	chr6:56236200-56238000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr6:56236200-56239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:56236400-56238200	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:56236400-56240000	Weak transcription	HSMMtube	muscle
21	chr6:56236600-56239600	Weak transcription	Osteobl	bone
22	chr6:56236600-56239800	Weak transcription	HSMM	muscle
23	chr6:56236600-56239800	Weak transcription	NHDF-Ad	bronchial
24	chr6:56236600-56242800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:56236800-56238800	Weak transcription	Psoas Muscle	Psoas
26	chr6:56236800-56239400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:56236800-56239800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:56236800-56240000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:56237000-56239800	Weak transcription	NHLF	lung
30	chr6:56237000-56240000	Weak transcription	Lung	lung
31	chr6:56237000-56240000	Weak transcription	Pancreas	Pancrea
32	chr6:56237200-56238000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr6:56237200-56239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:56237200-56239800	Weak transcription	Right Ventricle	heart
35	chr6:56237200-56240000	Weak transcription	Placenta	Placenta
36	chr6:56237400-56238000	Enhancers	Stomach Smooth Muscle	stomach
37	chr6:56237400-56239600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:56237400-56239800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:56237400-56240200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:56237600-56238200	Enhancers	Left Ventricle	heart
41	chr6:56237600-56239800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:56237600-56239800	Weak transcription	NHEK	skin
43	chr6:56237600-56240200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:56237600-56242200	Weak transcription	HepG2	liver
45	chr6:56237800-56238000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:56237800-56238200	Enhancers	Colon Smooth Muscle	Colon
47	chr6:56237800-56239800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:56237800-56239800	Weak transcription	Fetal Heart	heart
49	chr6:56237800-56239800	Weak transcription	Fetal Intestine Large	intestine
50	chr6:56237800-56239800	Weak transcription	Ovary	ovary

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