Variant report

Variant	rs34135940
Chromosome Location	chr7:136639516-136639517
allele	CA/TC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136638125..136641155-chr7:136643037..136646443,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1158586	0.83[AMR][1000 genomes]
rs1378645	0.85[AMR][1000 genomes]
rs1378646	0.85[AMR][1000 genomes]
rs1378647	0.81[AMR][1000 genomes]
rs1455857	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1455858	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1824024	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2350783	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6467696	0.81[AMR][1000 genomes]
rs6943950	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6952264	0.85[EUR][1000 genomes]
rs6960707	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7782965	0.81[AMR][1000 genomes]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
2	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
3	chr7:136633800-136641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136635600-136641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:136637200-136639800	Weak transcription	Fetal Heart	heart
6	chr7:136638000-136641200	Enhancers	HUVEC	blood vessel
7	chr7:136638400-136640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:136638400-136640600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136638400-136642200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:136638800-136640200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:136638800-136640200	Weak transcription	NH-A	brain
12	chr7:136638800-136640200	Weak transcription	Osteobl	bone
13	chr7:136638800-136641600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:136638800-136641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:136638800-136641600	Weak transcription	Gastric	stomach
16	chr7:136638800-136641600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:136639000-136640000	Weak transcription	NHLF	lung
18	chr7:136639000-136640200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:136639000-136640400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:136639000-136641400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:136639400-136641600	Weak transcription	Pancreas	Pancrea

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