Variant report

Variant	rs11808940
Chromosome Location	chr1:172244386-172244387
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172237804..172239793-chr1:172244110..172246344,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489291	0.81[CEU][hapmap]
rs10489292	0.81[CEU][hapmap]
rs10911387	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12049422	0.93[CEU][hapmap]
rs12069167	0.92[ASN][1000 genomes]
rs12403844	0.81[CEU][hapmap]
rs12404267	0.81[CEU][hapmap]
rs1317394	0.81[CEU][hapmap]
rs16844126	0.81[CEU][hapmap]
rs2422075	0.81[CEU][hapmap]
rs2586389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2586392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2586394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2586401	0.92[ASN][1000 genomes]
rs2586403	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2586404	0.93[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2586407	0.92[ASN][1000 genomes]
rs2586408	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2586410	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2586411	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2586412	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2586413	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2757493	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2757495	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2757496	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3850639	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs3895277	0.80[AMR][1000 genomes]
rs477289	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs479336	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6701414	0.81[CEU][hapmap]
rs6701929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7550558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv465650	chr1:172175115-172247127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv548192	chr1:172175115-172247127	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172225600-172246600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172236200-172247000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:172239000-172262000	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:172239800-172246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:172240000-172247600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:172240200-172247400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:172240400-172246400	Weak transcription	Osteobl	bone
8	chr1:172242800-172245600	Enhancers	Fetal Heart	heart
9	chr1:172243000-172245000	Enhancers	A549	lung
10	chr1:172243200-172246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:172243400-172247000	Weak transcription	Fetal Lung	lung
12	chr1:172243600-172244800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:172243600-172246000	Weak transcription	NHDF-Ad	bronchial
14	chr1:172243600-172246400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:172243600-172246400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:172243800-172246200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:172243800-172246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:172244000-172244400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:172244000-172245800	Enhancers	Fetal Intestine Small	intestine
20	chr1:172244200-172247600	Weak transcription	Pancreas	Pancrea

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