Variant report

Variant	rs11162387
Chromosome Location	chr1:78287808-78287809
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	chr1:78285341..78286851-chr1:78287650..78290404,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1038983	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10873954	0.96[ASN][1000 genomes]
rs10873955	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162366	0.81[EUR][1000 genomes]
rs11162378	0.85[JPT][hapmap]
rs11162380	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162383	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162384	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162386	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578805	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1166584	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1166586	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1166589	0.97[ASN][1000 genomes]
rs12026939	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12090729	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132838	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12142441	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12142671	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1389789	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1389790	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1539739	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166770	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1977900	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031342	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs203229	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2147318	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296227	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs278833	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278836	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs278837	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs278842	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs278843	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278847	0.80[AMR][1000 genomes]
rs278848	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs278850	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs278854	0.87[CEU][hapmap]
rs278855	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs278856	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs278857	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs278858	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs278859	0.94[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278860	0.88[CEU][hapmap]
rs278863	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs278864	0.88[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs366467	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs370335	0.94[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs371076	0.87[CEU][hapmap]
rs3767037	0.81[CHB][hapmap]
rs3767038	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4488068	0.86[ASN][1000 genomes]
rs4949661	0.83[EUR][1000 genomes]
rs4949814	0.81[EUR][1000 genomes]
rs4949822	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56688304	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs574973	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6603956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6603958	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6603960	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6657290	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6661656	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6670660	0.83[EUR][1000 genomes]
rs6672200	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6674638	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6687501	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6687596	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6691317	0.83[EUR][1000 genomes]
rs6698151	0.83[EUR][1000 genomes]
rs6699205	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6699311	0.84[JPT][hapmap]
rs717333	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7519946	0.84[ASN][1000 genomes]
rs7535781	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7536206	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543037	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs7543125	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545175	0.83[EUR][1000 genomes]
rs7552291	0.80[EUR][1000 genomes]
rs7556227	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8179272	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9662527	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
2	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
3	chr1:78266000-78298000	Weak transcription	K562	blood
4	chr1:78266200-78299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:78266200-78299200	Weak transcription	Pancreas	Pancrea
6	chr1:78268400-78291200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:78273400-78289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:78273600-78290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:78273600-78290000	Weak transcription	Psoas Muscle	Psoas
10	chr1:78273600-78293200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:78274600-78288600	Weak transcription	HepG2	liver
12	chr1:78274600-78290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:78274800-78297400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:78274800-78297600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:78274800-78298000	Weak transcription	Fetal Kidney	kidney
16	chr1:78275000-78289000	Weak transcription	A549	lung
17	chr1:78275000-78312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:78277000-78290200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:78277400-78291200	Strong transcription	Fetal Intestine Small	intestine
20	chr1:78277600-78292600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:78278400-78289600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:78278800-78288800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:78278800-78290200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:78279200-78288000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:78279200-78288000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:78279200-78288200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:78279200-78288200	Strong transcription	Liver	Liver
28	chr1:78279200-78288400	Strong transcription	Fetal Intestine Large	intestine
29	chr1:78279200-78288800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:78279200-78289600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:78279200-78300400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:78279400-78289600	Strong transcription	Fetal Thymus	thymus
33	chr1:78279400-78289800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:78279400-78290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:78279800-78294800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:78280000-78292200	Weak transcription	Aorta	Aorta
37	chr1:78280400-78289400	Weak transcription	NHLF	lung
38	chr1:78280400-78297400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:78280600-78291000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:78280600-78292600	Weak transcription	Lung	lung
41	chr1:78280600-78298000	Weak transcription	Fetal Brain Male	brain
42	chr1:78280600-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:78281000-78291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:78281000-78296600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:78281000-78308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:78281200-78290200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:78281200-78316400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:78281600-78297600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:78282600-78288200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:78282600-78288400	Strong transcription	Primary B cells from peripheral blood	blood

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