Variant report

Variant	rs999243
Chromosome Location	chr5:111678743-111678744
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	chr5:111678130..111679875-chr5:111682477..111684112,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10039730	1.00[JPT][hapmap]
rs10044406	1.00[JPT][hapmap]
rs10051512	1.00[JPT][hapmap]
rs10060962	1.00[JPT][hapmap]
rs10061025	1.00[JPT][hapmap]
rs10061207	1.00[JPT][hapmap]
rs10062045	1.00[JPT][hapmap]
rs10068969	1.00[JPT][hapmap]
rs10068974	1.00[JPT][hapmap]
rs10069608	1.00[JPT][hapmap]
rs10069773	1.00[JPT][hapmap]
rs10071058	1.00[JPT][hapmap]
rs10071862	1.00[JPT][hapmap]
rs10071986	1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10077774	1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10515444	1.00[JPT][hapmap]
rs12187850	1.00[JPT][hapmap]
rs13354202	1.00[JPT][hapmap]
rs13354699	1.00[JPT][hapmap]
rs1524423	1.00[JPT][hapmap]
rs1554624	1.00[JPT][hapmap]
rs17134335	0.84[ASN][1000 genomes]
rs17134357	0.84[ASN][1000 genomes]
rs17134381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17134382	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17134384	0.92[ASN][1000 genomes]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[JPT][hapmap]
rs17134429	1.00[JPT][hapmap]
rs17134454	1.00[JPT][hapmap]
rs17134478	1.00[JPT][hapmap]
rs17134503	1.00[JPT][hapmap]
rs17134505	1.00[JPT][hapmap]
rs2416285	1.00[JPT][hapmap]
rs388383	1.00[JPT][hapmap]
rs3985058	1.00[JPT][hapmap]
rs448714	1.00[JPT][hapmap]
rs56018262	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57004301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57211830	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57778181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60021992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60193147	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60730910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60806157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60836718	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594590	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594594	1.00[JPT][hapmap]
rs6594596	1.00[JPT][hapmap]
rs6860402	1.00[JPT][hapmap]
rs6863425	0.92[ASN][1000 genomes]
rs6863610	1.00[JPT][hapmap]
rs6865127	1.00[JPT][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6875349	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6878092	1.00[JPT][hapmap]
rs6878158	1.00[JPT][hapmap]
rs6879906	1.00[JPT][hapmap]
rs6883585	1.00[JPT][hapmap]
rs6883800	1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6894365	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs721054	1.00[JPT][hapmap]
rs721055	1.00[JPT][hapmap]
rs7702999	1.00[JPT][hapmap]
rs7703875	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7706551	1.00[JPT][hapmap]
rs7706737	1.00[JPT][hapmap]
rs7707028	1.00[JPT][hapmap]
rs7709879	1.00[JPT][hapmap]
rs7709963	1.00[JPT][hapmap]
rs7710041	1.00[JPT][hapmap]
rs7710507	1.00[JPT][hapmap]
rs7714258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7716246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7716394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7720272	0.84[ASN][1000 genomes]
rs7723364	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7725728	1.00[JPT][hapmap]
rs7730739	1.00[JPT][hapmap]
rs7733415	1.00[JPT][hapmap]
rs7736305	1.00[JPT][hapmap]
rs7737622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs821738	1.00[CHB][hapmap]
rs821739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821746	1.00[JPT][hapmap]
rs821750	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9326853	1.00[JPT][hapmap]
rs985873	1.00[JPT][hapmap]
rs986797	1.00[JPT][hapmap]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[JPT][hapmap]
rs9885390	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	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
6	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:111675000-111682800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:111675600-111687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:111676200-111689000	Weak transcription	Lung	lung
6	chr5:111677800-111678800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:111677800-111678800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:111678000-111678800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:111678000-111679000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:111678000-111679200	Enhancers	Brain Hippocampus Middle	brain
11	chr5:111678200-111678800	Enhancers	Right Atrium	heart
12	chr5:111678200-111679400	Enhancers	Left Ventricle	heart
13	chr5:111678400-111683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:111678400-111684600	Weak transcription	Right Ventricle	heart
15	chr5:111678400-111689000	Weak transcription	Gastric	stomach
16	chr5:111678600-111679400	Enhancers	Fetal Heart	heart
17	chr5:111678600-111682600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:111678600-111683400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:111678600-111683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:111678600-111683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:111678600-111683800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea

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