Variant report

Variant	rs4651272
Chromosome Location	chr1:185543071-185543072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185208758..185211044-chr1:185542238..185543760,2	K562	blood:
2	chr1:185543032..185544873-chr1:185562406..185564543,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10798019	0.95[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs10798024	0.81[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[ASN][1000 genomes]
rs12090554	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2756206	1.00[JPT][hapmap]
rs2842580	1.00[JPT][hapmap]
rs4651271	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651281	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs498961	1.00[JPT][hapmap]
rs551806	1.00[JPT][hapmap]
rs552584	1.00[JPT][hapmap]
rs564265	1.00[JPT][hapmap]
rs61829593	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185535000-185543400	Weak transcription	HSMMtube	muscle
3	chr1:185540600-185551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185542000-185543800	Enhancers	Fetal Kidney	kidney
5	chr1:185542000-185544000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:185542000-185544200	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:185542200-185544400	Enhancers	Fetal Intestine Large	intestine
8	chr1:185542400-185543800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:185542400-185544000	Enhancers	Primary B cells from cord blood	blood
10	chr1:185542400-185544000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:185542600-185543600	Enhancers	Fetal Intestine Small	intestine
12	chr1:185542800-185543400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:185542800-185543400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:185543000-185543200	Enhancers	Pancreas	Pancrea
15	chr1:185543000-185543200	Enhancers	Small Intestine	intestine
16	chr1:185543000-185543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:185543000-185543800	Enhancers	HepG2	liver
18	chr1:185543000-185544000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:185543000-185544000	Enhancers	A549	lung
20	chr1:185543000-185544200	Enhancers	HMEC	breast
21	chr1:185543000-185544400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:185543000-185544400	Enhancers	NHEK	skin

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