Variant report

Variant	rs7710004
Chromosome Location	chr5:119842711-119842712
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	chr5:119835822..119838149-chr5:119840873..119842800,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10035683	0.96[YRI][hapmap];0.98[AFR][1000 genomes]
rs10052263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10052334	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10060164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064623	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10064951	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10065330	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10213989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477605	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478471	0.92[AFR][1000 genomes]
rs10478472	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478474	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10519636	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11949016	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13356306	0.91[AFR][1000 genomes]
rs13357191	0.83[AFR][1000 genomes]
rs13359288	0.86[AFR][1000 genomes]
rs13361121	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1378262	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16766	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17146662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17146705	0.95[ASN][1000 genomes]
rs1823926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1823927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap]
rs2601209	1.00[JPT][hapmap]
rs2601210	0.87[AFR][1000 genomes]
rs2601211	0.93[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs2604163	0.81[ASW][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs2604164	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2604165	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs2655066	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2655067	0.82[ASW][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2655069	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2691094	0.82[AFR][1000 genomes]
rs2691097	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691100	1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs300956	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs300957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs3991306	1.00[ASN][1000 genomes]
rs4476747	0.94[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4895261	0.93[CEU][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs6595239	0.96[YRI][hapmap];0.98[AFR][1000 genomes]
rs6865123	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6871554	0.85[AFR][1000 genomes]
rs6882134	0.90[AFR][1000 genomes]
rs6892665	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6895369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786260	0.91[ASN][1000 genomes]
rs72788222	0.91[ASN][1000 genomes]
rs72788223	0.95[ASN][1000 genomes]
rs72788224	0.95[ASN][1000 genomes]
rs72788231	0.95[ASN][1000 genomes]
rs72788238	0.91[ASN][1000 genomes]
rs7448156	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7702580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706025	0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7710626	0.98[AFR][1000 genomes]
rs7710848	0.88[ASW][hapmap];0.84[LWK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs7710928	0.84[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs7712847	0.84[AFR][1000 genomes]
rs7715549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7728098	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7733602	0.88[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	0.94[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9327145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327146	0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9687538	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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7710004	DSC3	trans	lymphoblastoid	seeQTL
rs7710004	SNCAIP	cis	parietal	SCAN
rs7710004	CLEC4A	trans	lymphoblastoid	seeQTL
rs7710004	FAM170A	cis	cerebellum	SCAN
rs7710004	TBC1D30	trans	lymphoblastoid	seeQTL
rs7710004	CDH1	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:119834400-119843600	Weak transcription	HSMMtube	muscle
4	chr5:119835800-119843000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:119836400-119852400	Weak transcription	HSMM	muscle
6	chr5:119838800-119843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
8	chr5:119840400-119842800	Weak transcription	Fetal Lung	lung
9	chr5:119842400-119843000	Enhancers	NHDF-Ad	bronchial
10	chr5:119842400-119844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:119842400-119844000	Enhancers	Osteobl	bone
12	chr5:119842600-119842800	Enhancers	K562	blood
13	chr5:119842600-119843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:119842600-119843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:119842600-119852400	Weak transcription	Aorta	Aorta

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