Variant report

Variant	rs61608852
Chromosome Location	chr1:192671870-192671871
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	chr1:192670911..192673687-chr1:192675700..192678097,2	K562	blood:
2	chr1:192665447..192667038-chr1:192670205..192672534,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58114792	0.81[AFR][1000 genomes]
rs59176125	0.81[AFR][1000 genomes]
rs74130424	0.94[AFR][1000 genomes]
rs74130440	0.90[AFR][1000 genomes];1.00[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192667600-192673000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:192669000-192672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:192669000-192672000	Enhancers	Hela-S3	cervix
4	chr1:192669000-192673200	Enhancers	NHLF	lung
5	chr1:192669200-192672400	Enhancers	Fetal Intestine Large	intestine
6	chr1:192669200-192672400	Enhancers	Osteobl	bone
7	chr1:192669200-192672800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:192669400-192672200	Enhancers	HUVEC	blood vessel
9	chr1:192669600-192672000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:192669600-192672200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:192669600-192673200	Enhancers	HMEC	breast
12	chr1:192669600-192674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:192670000-192672200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:192670200-192672600	Enhancers	NH-A	brain
15	chr1:192670200-192676200	Enhancers	HepG2	liver
16	chr1:192670600-192672000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:192671200-192672000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:192671200-192672200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:192671400-192677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:192671400-192677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:192671600-192672600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:192671600-192676600	Weak transcription	Stomach Mucosa	stomach
23	chr1:192671600-192676800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:192671800-192672200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:192671800-192672200	Enhancers	Placenta	Placenta
26	chr1:192671800-192672400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:192671800-192672600	Enhancers	A549	lung
28	chr1:192671800-192672800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:192671800-192673000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:192671800-192677200	Weak transcription	NHEK	skin
31	chr1:192671800-192678400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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