Variant report

Variant	rs2011636
Chromosome Location	chr7:40739285-40739286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10250246	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10486813	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10951638	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1146040	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203727	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203728	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203733	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203734	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13235741	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13239043	0.80[EUR][1000 genomes]
rs17171763	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171764	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35428147	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6462987	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6952969	0.80[EUR][1000 genomes]
rs6959899	0.81[ASN][1000 genomes]
rs6965055	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978898	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808606	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40734600-40740800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:40737200-40742200	Enhancers	Osteobl	bone
3	chr7:40737200-40742400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:40738200-40739800	Weak transcription	HSMM	muscle
5	chr7:40738200-40740400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:40738200-40740400	Weak transcription	Aorta	Aorta
7	chr7:40738200-40740600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:40738400-40740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:40738400-40740400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:40738400-40746000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:40738600-40739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:40738600-40740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:40738600-40740400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:40738600-40740400	Weak transcription	HSMMtube	muscle
15	chr7:40738600-40740400	Weak transcription	NH-A	brain
16	chr7:40738600-40740400	Weak transcription	NHDF-Ad	bronchial
17	chr7:40739000-40739400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:40739000-40739800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:40739000-40740200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:40739200-40739800	Weak transcription	HMEC	breast

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