Variant report

Variant	rs11583193
Chromosome Location	chr1:185540618-185540619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185528036..185530199-chr1:185540176..185542231,2	MCF-7	breast:
2	chr1:185274392..185277102-chr1:185539346..185541566,2	MCF-7	breast:
3	chr1:185534952..185537044-chr1:185538888..185541072,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10911754	0.80[EUR][1000 genomes]
rs10911755	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs10911756	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11576129	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11576884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11586605	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029108	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046138	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321998	0.80[EUR][1000 genomes]
rs1321999	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs2295792	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28776539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35495151	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41453048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56164019	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56822355	0.81[EUR][1000 genomes]
rs57836721	0.80[EUR][1000 genomes]
rs58848006	0.80[EUR][1000 genomes]
rs6701720	0.82[ASN][1000 genomes]
rs72726098	0.80[EUR][1000 genomes]
rs72727706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72727712	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727728	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74132957	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7518777	1.00[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	chr1:185529400-185543000	Weak transcription	Pancreas	Pancrea
2	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185533000-185540800	Enhancers	NHEK	skin
4	chr1:185534800-185543000	Weak transcription	A549	lung
5	chr1:185535000-185543400	Weak transcription	HSMMtube	muscle
6	chr1:185536200-185542000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:185537200-185543000	Weak transcription	Small Intestine	intestine
8	chr1:185538000-185541800	Enhancers	Fetal Intestine Large	intestine
9	chr1:185538200-185542000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:185538400-185541600	Enhancers	Fetal Intestine Small	intestine
11	chr1:185538600-185542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:185538800-185542400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:185539000-185542400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:185539400-185541600	Enhancers	Fetal Kidney	kidney
15	chr1:185540000-185540800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:185540200-185542000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:185540200-185543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:185540400-185540800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:185540400-185542800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:185540400-185543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:185540600-185543000	Weak transcription	HMEC	breast
22	chr1:185540600-185551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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