Variant report

Variant	rs9316386
Chromosome Location	chr13:49079651-49079652
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	chr13:49075530..49077233-chr13:49077933..49080570,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10076	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs12583514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[ASN][1000 genomes]
rs12857866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17071695	1.00[CHD][hapmap]
rs17071937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs174857	0.82[MEX][hapmap]
rs174858	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs1926597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198574	0.91[MEX][hapmap]
rs198580	1.00[CEU][hapmap]
rs198582	1.00[CEU][hapmap]
rs198589	1.00[CEU][hapmap]
rs198606	0.82[MEX][hapmap]
rs198614	0.82[MEX][hapmap]
rs198617	1.00[CHD][hapmap]
rs198618	1.00[CHD][hapmap]
rs2148515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156910	1.00[CEU][hapmap]
rs2804085	1.00[CHD][hapmap]
rs2854342	0.82[MEX][hapmap]
rs2854361	1.00[CHD][hapmap]
rs3020646	1.00[CHD][hapmap]
rs3092865	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs367438	1.00[CEU][hapmap]
rs406098	0.82[MEX][hapmap]
rs411862	1.00[CHD][hapmap]
rs4151421	1.00[CEU][hapmap]
rs4151424	1.00[CEU][hapmap]
rs4151426	1.00[CEU][hapmap]
rs4151440	1.00[CEU][hapmap]
rs4151463	1.00[CEU][hapmap]
rs4151469	1.00[CEU][hapmap]
rs4151475	1.00[CEU][hapmap]
rs4151479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151480	1.00[CEU][hapmap]
rs4151498	1.00[CEU][hapmap]
rs4151505	1.00[CEU][hapmap]
rs4151522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151529	1.00[CEU][hapmap]
rs4151536	1.00[CEU][hapmap]
rs4151567	1.00[CEU][hapmap]
rs4151590	1.00[CHD][hapmap]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4151602	1.00[ASN][1000 genomes]
rs4151610	1.00[CEU][hapmap]
rs4151613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs449151	1.00[CEU][hapmap]
rs449268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[ASN][1000 genomes]
rs55686933	1.00[ASN][1000 genomes]
rs57394470	1.00[ASN][1000 genomes]
rs6561448	0.83[AMR][1000 genomes]
rs6561457	0.83[AMR][1000 genomes]
rs6561461	0.85[TSI][hapmap]
rs6650379	1.00[ASN][1000 genomes]
rs7139763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7325962	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs7326934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7332631	1.00[CHD][hapmap]
rs73479216	0.83[ASN][1000 genomes]
rs73479220	1.00[ASN][1000 genomes]
rs73495018	1.00[ASN][1000 genomes]
rs73495037	1.00[ASN][1000 genomes]
rs74074915	1.00[ASN][1000 genomes]
rs74074916	1.00[ASN][1000 genomes]
rs74074942	1.00[ASN][1000 genomes]
rs74074944	1.00[ASN][1000 genomes]
rs74074946	1.00[ASN][1000 genomes]
rs74074951	1.00[ASN][1000 genomes]
rs74077638	1.00[ASN][1000 genomes]
rs8001241	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs9316384	1.00[ASN][1000 genomes]
rs9316385	0.83[AMR][1000 genomes]
rs9316387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316392	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9316396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316398	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331984	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9331994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9331999	1.00[CEU][hapmap]
rs9332025	1.00[CHD][hapmap]
rs9332031	1.00[CEU][hapmap]
rs9332033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332037	1.00[CEU][hapmap]
rs9332044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332049	1.00[CEU][hapmap]
rs9332053	1.00[GIH][hapmap]
rs9332055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332066	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9332070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332085	1.00[ASN][1000 genomes]
rs9591171	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9591176	1.00[ASN][1000 genomes]
rs9595894	1.00[CHD][hapmap]
rs9595914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9595924	1.00[ASN][1000 genomes]
rs9595926	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
4	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
5	chr13:49067000-49084200	Weak transcription	Ovary	ovary
6	chr13:49067200-49080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
10	chr13:49068000-49105600	Weak transcription	Gastric	stomach
11	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:49068400-49081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
14	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
15	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:49072200-49080200	Weak transcription	Spleen	Spleen
18	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:49072400-49079800	Weak transcription	Brain Substantia Nigra	brain
21	chr13:49072400-49080200	Weak transcription	Aorta	Aorta
22	chr13:49072400-49080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:49073200-49085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:49073400-49080200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:49073800-49081200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:49074800-49083000	Weak transcription	Fetal Intestine Small	intestine
28	chr13:49075400-49080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:49075400-49085800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
32	chr13:49075800-49080200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:49075800-49080400	Weak transcription	NHLF	lung
34	chr13:49075800-49086000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:49076000-49080000	Weak transcription	Brain Anterior Caudate	brain
38	chr13:49076000-49083000	Weak transcription	Fetal Lung	lung
39	chr13:49076000-49084800	Weak transcription	Liver	Liver
40	chr13:49076000-49085800	Weak transcription	Fetal Kidney	kidney
41	chr13:49076600-49084800	Weak transcription	Brain Germinal Matrix	brain
42	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
43	chr13:49077000-49085800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:49077200-49080000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:49077400-49080600	Weak transcription	Fetal Brain Female	brain
46	chr13:49077600-49081600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:49077800-49081600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr13:49078000-49080000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr13:49078000-49081600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr13:49078000-49084400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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