Variant report

Variant	rs255013
Chromosome Location	chr7:41229231-41229232
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	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10233411	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10242681	0.89[CEU][hapmap]
rs10951647	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11768019	0.84[ASN][1000 genomes]
rs11768122	0.81[ASN][1000 genomes]
rs11975129	0.92[EUR][1000 genomes]
rs12532282	0.82[ASN][1000 genomes]
rs12670349	0.92[CEU][hapmap]
rs12701868	0.81[ASN][1000 genomes]
rs12701869	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12701875	0.89[CEU][hapmap]
rs13222193	0.92[CEU][hapmap]
rs13222281	0.92[CEU][hapmap]
rs13225532	0.91[ASN][1000 genomes]
rs13234888	0.92[CEU][hapmap]
rs13311231	0.84[ASN][1000 genomes]
rs255008	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255009	0.94[EUR][1000 genomes]
rs255010	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255012	0.91[ASN][1000 genomes]
rs255014	0.91[ASN][1000 genomes]
rs255015	0.91[ASN][1000 genomes]
rs255016	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255017	0.91[ASN][1000 genomes]
rs255018	0.93[EUR][1000 genomes]
rs28176	0.80[ASN][1000 genomes]
rs29519	0.80[ASN][1000 genomes]
rs29522	0.80[ASN][1000 genomes]
rs29530	0.86[ASN][1000 genomes]
rs29532	0.86[ASN][1000 genomes]
rs29533	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs29534	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs29535	0.93[EUR][1000 genomes]
rs29536	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs29537	0.89[ASN][1000 genomes]
rs29538	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs29539	0.89[ASN][1000 genomes]
rs6951425	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs756439	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796964	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534465	chr7:41224437-41443498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs255013	MYL7	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41215400-41230400	Weak transcription	Pancreas	Pancrea
2	chr7:41225400-41231000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:41226000-41231000	Enhancers	HUVEC	blood vessel
4	chr7:41226400-41230400	Enhancers	Placenta	Placenta
5	chr7:41226400-41230600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:41226400-41230800	Enhancers	HMEC	breast
7	chr7:41226400-41231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:41226400-41231000	Enhancers	NHEK	skin
9	chr7:41226800-41230600	Enhancers	NHLF	lung
10	chr7:41226800-41230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:41226800-41230800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:41226800-41231000	Enhancers	NHDF-Ad	bronchial
13	chr7:41227000-41229400	Weak transcription	Esophagus	oesophagus
14	chr7:41227000-41230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:41227600-41230600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:41227800-41230000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:41227800-41231000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:41228000-41230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:41228400-41229400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:41228400-41230400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:41228400-41230400	Enhancers	Hela-S3	cervix
22	chr7:41228400-41230600	Enhancers	Osteobl	bone
23	chr7:41228600-41229600	Weak transcription	Fetal Kidney	kidney
24	chr7:41229000-41229600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:41229000-41229600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:41229000-41229600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:41229000-41229800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:41229000-41230800	Enhancers	HSMMtube	muscle
29	chr7:41229200-41229400	Enhancers	Fetal Lung	lung
30	chr7:41229200-41229400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:41229200-41229600	Flanking Active TSS	HSMM	muscle
32	chr7:41229200-41229600	Flanking Active TSS	NH-A	brain
33	chr7:41229200-41229800	Enhancers	Aorta	Aorta

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