Variant report

Variant	rs17690493
Chromosome Location	chr7:41147225-41147226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:41094208..41096030-chr7:41145732..41147304,2	MCF-7	breast:
2	chr7:41146681..41148489-chr7:41163349..41165376,2	MCF-7	breast:
3	chr7:41146553..41148320-chr7:41712206..41714771,2	MCF-7	breast:
4	chr7:41098763..41101210-chr7:41146647..41148149,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10237206	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10237832	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237840	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251668	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257259	0.88[AMR][1000 genomes]
rs10261454	0.91[AMR][1000 genomes]
rs10261869	0.80[EUR][1000 genomes]
rs10264020	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274378	0.80[EUR][1000 genomes]
rs10486706	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1117542	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13438627	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622724	0.84[AMR][1000 genomes]
rs17622819	0.87[AMR][1000 genomes]
rs17622929	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17622952	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17623051	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17623158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17690104	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17690295	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17690378	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17690408	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28473068	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627677	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29507	1.00[ASN][1000 genomes]
rs41409244	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs41449551	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57080178	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58767715	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59566101	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6966665	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321554	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73687944	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73687945	0.80[EUR][1000 genomes]
rs73687947	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034605	chr7:41096638-41222426	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41129200-41175200	Weak transcription	Aorta	Aorta
2	chr7:41145000-41147400	Weak transcription	Osteobl	bone
3	chr7:41145600-41149600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:41146200-41147400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:41146200-41147400	Enhancers	Esophagus	oesophagus
6	chr7:41146200-41147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:41146200-41151000	Enhancers	HMEC	breast
8	chr7:41147000-41147400	Enhancers	Placenta	Placenta
9	chr7:41147000-41147400	Enhancers	NH-A	brain
10	chr7:41147000-41147600	Enhancers	Fetal Muscle Leg	muscle
11	chr7:41147000-41147800	Flanking Active TSS	Hela-S3	cervix
12	chr7:41147000-41147800	Flanking Active TSS	NHEK	skin
13	chr7:41147000-41148200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:41147000-41148200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:41147000-41148400	Enhancers	NHDF-Ad	bronchial
16	chr7:41147000-41148600	Enhancers	HSMM	muscle
17	chr7:41147200-41147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:41147200-41147400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:41147200-41147600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:41147200-41147600	Enhancers	HSMMtube	muscle
21	chr7:41147200-41147800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:41147200-41147800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:41147200-41147800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:41147200-41147800	Enhancers	HUVEC	blood vessel
25	chr7:41147200-41148000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:41147200-41148000	Active TSS	A549	lung
27	chr7:41147200-41148000	Enhancers	NHLF	lung
28	chr7:41147200-41148400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:41147200-41148600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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