Variant report

Variant	rs7703963
Chromosome Location	chr5:59125199-59125200
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	chr5:59124958..59127632-chr5:59130819..59132620,2	K562	blood:
2	chr5:59120554..59123102-chr5:59125024..59126898,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10043283	1.00[YRI][hapmap]
rs1008709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1027747	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs10940649	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1120533	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11951422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11956684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12523468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13168347	0.89[ASN][1000 genomes]
rs13173398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1362941	0.82[JPT][hapmap]
rs168883	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs17310599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17311853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17311925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369708	1.00[JPT][hapmap]
rs17371174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440909	0.82[JPT][hapmap]
rs17441825	0.82[JPT][hapmap]
rs17743216	0.82[JPT][hapmap]
rs17799161	0.82[JPT][hapmap]
rs17830249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2938780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2938783	0.90[ASN][1000 genomes]
rs2938786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2963817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2963818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2963821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2963822	0.90[ASN][1000 genomes]
rs2963825	0.93[ASN][1000 genomes]
rs2963826	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3111173	0.99[ASN][1000 genomes]
rs34380238	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3898713	1.00[YRI][hapmap]
rs4699943	1.00[JPT][hapmap]
rs4700342	0.89[ASN][1000 genomes]
rs56312915	0.94[ASN][1000 genomes]
rs60204066	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661576	0.81[ASN][1000 genomes]
rs6885294	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72751266	0.94[ASN][1000 genomes]
rs72751270	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72751273	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72751280	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72751283	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72751285	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72751288	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72751293	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72751296	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72751298	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs756211	1.00[JPT][hapmap]
rs756212	1.00[JPT][hapmap]
rs7718249	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7730821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs986400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59110400-59139000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59117000-59127200	Weak transcription	Aorta	Aorta
3	chr5:59119800-59127000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:59122800-59127000	Enhancers	Hela-S3	cervix
5	chr5:59123000-59126200	Enhancers	Fetal Lung	lung
6	chr5:59123200-59126600	Enhancers	HSMM	muscle
7	chr5:59124000-59125200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:59124200-59126000	Enhancers	NH-A	brain
9	chr5:59124400-59126400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:59124400-59127800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:59124400-59129200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:59124600-59125200	Weak transcription	Brain Germinal Matrix	brain
13	chr5:59124600-59126000	Enhancers	Fetal Kidney	kidney
14	chr5:59124600-59126600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:59124600-59127200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:59124800-59125400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:59124800-59125800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:59124800-59126000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:59124800-59126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:59124800-59127200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:59124800-59128800	Weak transcription	Fetal Stomach	stomach
22	chr5:59124800-59128800	Weak transcription	HSMMtube	muscle
23	chr5:59125000-59125400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:59125000-59125400	Weak transcription	NHLF	lung

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