Variant report

Variant	rs1503815
Chromosome Location	chr1:161838128-161838129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10399867	0.87[ASN][1000 genomes]
rs10436881	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800079	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10917876	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10917968	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918029	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12024729	0.83[YRI][hapmap]
rs12042663	0.83[ASN][1000 genomes]
rs12045320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12045333	0.85[YRI][hapmap]
rs12079579	0.81[ASN][1000 genomes]
rs12081397	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12086247	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12097712	0.81[ASN][1000 genomes]
rs12124369	0.86[AFR][1000 genomes]
rs12405111	0.81[YRI][hapmap]
rs12691498	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1354370	0.83[YRI][hapmap]
rs1394066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1503807	0.83[YRI][hapmap]
rs16860777	0.81[YRI][hapmap]
rs1875762	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2089083	0.83[YRI][hapmap]
rs2134697	0.86[AFR][1000 genomes]
rs2271010	0.83[YRI][hapmap]
rs2340715	0.83[YRI][hapmap]
rs2341475	0.88[AFR][1000 genomes]
rs28505989	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28628087	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2880056	0.81[YRI][hapmap]
rs3767636	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60578284	0.81[ASN][1000 genomes]
rs6427632	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6660014	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6672073	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698956	0.93[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7355188	0.85[ASN][1000 genomes]
rs7513303	0.83[YRI][hapmap]
rs7516955	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518743	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7529274	0.84[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7550803	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1014340	chr1:161822791-161852384	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:161795200-161860200	Weak transcription	Lung	lung
4	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
5	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
9	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
10	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
11	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:161819800-161852600	Weak transcription	NHDF-Ad	bronchial
13	chr1:161820600-161849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:161823600-161839200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:161823600-161842200	Weak transcription	Osteobl	bone
16	chr1:161823600-161858800	Weak transcription	Thymus	Thymus
17	chr1:161823800-161857000	Weak transcription	Ovary	ovary
18	chr1:161824000-161838200	Weak transcription	HSMMtube	muscle
19	chr1:161824000-161840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:161824000-161842400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:161824000-161854400	Weak transcription	NH-A	brain
22	chr1:161824000-161859000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:161824200-161838800	Weak transcription	Fetal Lung	lung
24	chr1:161824200-161841800	Weak transcription	NHEK	skin
25	chr1:161824200-161842200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:161824200-161854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:161824400-161853200	Weak transcription	HSMM	muscle
29	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:161824600-161853400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:161824600-161858600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:161824800-161839600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:161825200-161840600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:161825200-161855000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:161825200-161856400	Weak transcription	K562	blood
36	chr1:161825600-161838200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:161825600-161863200	Weak transcription	Fetal Heart	heart
38	chr1:161825800-161859200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:161826200-161858600	Weak transcription	Psoas Muscle	Psoas
40	chr1:161826200-161860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:161829400-161838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:161829800-161838800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:161830400-161844200	Weak transcription	Fetal Thymus	thymus
44	chr1:161830800-161838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:161830800-161839000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:161831000-161838600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:161831000-161855000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:161831800-161838400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:161831800-161840800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:161831800-161856400	Weak transcription	Left Ventricle	heart

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