Variant report

Variant	rs10051512
Chromosome Location	chr5:111753136-111753137
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	chr5:111505441..111507205-chr5:111752251..111753989,2	K562	blood:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10036273	0.89[ASN][1000 genomes]
rs10036357	0.89[ASN][1000 genomes]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10041380	1.00[ASN][1000 genomes]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10050630	0.82[ASN][1000 genomes]
rs10056040	1.00[ASN][1000 genomes]
rs10059675	1.00[ASN][1000 genomes]
rs10060534	1.00[ASN][1000 genomes]
rs10060831	0.82[ASN][1000 genomes]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10069313	1.00[ASN][1000 genomes]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10076627	1.00[ASN][1000 genomes]
rs10077058	1.00[ASN][1000 genomes]
rs10077309	1.00[ASN][1000 genomes]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10079307	0.94[ASN][1000 genomes]
rs10477480	1.00[ASN][1000 genomes]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10478086	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12187850	1.00[CHB][hapmap]
rs12189127	0.94[ASN][1000 genomes]
rs12189152	0.94[ASN][1000 genomes]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13358734	0.80[ASN][1000 genomes]
rs1345685	0.82[ASN][1000 genomes]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1524424	1.00[ASN][1000 genomes]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134479	1.00[ASN][1000 genomes]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28497526	1.00[ASN][1000 genomes]
rs28626415	1.00[ASN][1000 genomes]
rs28631626	0.89[ASN][1000 genomes]
rs28716575	1.00[ASN][1000 genomes]
rs28806604	1.00[ASN][1000 genomes]
rs28831993	1.00[ASN][1000 genomes]
rs28836584	1.00[ASN][1000 genomes]
rs28851506	1.00[ASN][1000 genomes]
rs28887818	1.00[ASN][1000 genomes]
rs2900063	1.00[ASN][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3985049	0.83[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4441914	1.00[ASN][1000 genomes]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594597	1.00[ASN][1000 genomes]
rs6594599	0.82[ASN][1000 genomes]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6861534	1.00[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap]
rs6873453	1.00[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894395	0.82[ASN][1000 genomes]
rs6895299	1.00[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73214254	1.00[ASN][1000 genomes]
rs73214256	1.00[ASN][1000 genomes]
rs73214261	1.00[ASN][1000 genomes]
rs73214264	1.00[ASN][1000 genomes]
rs73214270	1.00[ASN][1000 genomes]
rs73214272	1.00[ASN][1000 genomes]
rs73214274	1.00[ASN][1000 genomes]
rs73216591	1.00[ASN][1000 genomes]
rs73218321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73218338	0.94[ASN][1000 genomes]
rs73218339	1.00[ASN][1000 genomes]
rs73218340	1.00[ASN][1000 genomes]
rs73218343	1.00[ASN][1000 genomes]
rs73218347	1.00[ASN][1000 genomes]
rs73218348	1.00[ASN][1000 genomes]
rs73218349	1.00[ASN][1000 genomes]
rs73220307	1.00[ASN][1000 genomes]
rs7702830	0.94[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7705094	1.00[ASN][1000 genomes]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7710063	1.00[ASN][1000 genomes]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7711662	1.00[ASN][1000 genomes]
rs7714450	1.00[ASN][1000 genomes]
rs7718804	1.00[AMR][1000 genomes]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7725742	1.00[ASN][1000 genomes]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7736457	0.82[ASN][1000 genomes]
rs821746	1.00[CHB][hapmap]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9654518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9885209	1.00[ASN][1000 genomes]
rs9885211	1.00[ASN][1000 genomes]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs999243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
6	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
8	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
9	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
10	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:111748200-111753400	Weak transcription	Fetal Lung	lung
12	chr5:111748600-111753600	Weak transcription	Left Ventricle	heart
13	chr5:111749400-111753400	Weak transcription	Fetal Kidney	kidney
14	chr5:111749400-111753600	Weak transcription	Lung	lung
15	chr5:111749600-111753600	Weak transcription	Esophagus	oesophagus
16	chr5:111749600-111753600	Weak transcription	Gastric	stomach
17	chr5:111749600-111753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:111749800-111753400	Weak transcription	NHEK	skin
19	chr5:111749800-111753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:111750400-111753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:111751600-111753400	Weak transcription	Ovary	ovary
22	chr5:111752200-111753600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:111752400-111753400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:111752400-111754000	Active TSS	Fetal Brain Female	brain
25	chr5:111752600-111753400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:111752600-111753400	Active TSS	Adipose Nuclei	Adipose
27	chr5:111752600-111753400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:111752600-111753400	Enhancers	Hela-S3	cervix
29	chr5:111752600-111753600	Enhancers	Brain Germinal Matrix	brain
30	chr5:111752800-111754200	Flanking Active TSS	Fetal Brain Male	brain
31	chr5:111752800-111755200	Active TSS	Psoas Muscle	Psoas
32	chr5:111752800-111756200	Active TSS	Right Atrium	heart
33	chr5:111752800-111756400	Active TSS	Aorta	Aorta
34	chr5:111753000-111753200	Enhancers	Fetal Heart	heart
35	chr5:111753000-111753400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:111753000-111753600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:111753000-111753600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:111753000-111754400	Flanking Active TSS	HUVEC	blood vessel
39	chr5:111753000-111756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:111753000-111756600	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links