Variant report

Variant	rs7702580
Chromosome Location	chr5:119846478-119846479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119799024..119803543-chr5:119846360..119850142,7	K562	blood:
2	chr5:119797915..119802369-chr5:119845575..119850142,8	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10035683	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs10052263	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10052334	0.83[AFR][1000 genomes]
rs10060164	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064623	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10064951	0.95[ASN][1000 genomes]
rs10065330	0.88[AFR][1000 genomes]
rs10213989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10214171	0.85[CEU][hapmap]
rs10477605	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10478471	0.82[AFR][1000 genomes]
rs10478472	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10478473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478474	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10519636	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11949016	0.86[AFR][1000 genomes]
rs11960555	0.85[CEU][hapmap]
rs13356306	0.81[AFR][1000 genomes]
rs13360299	0.85[CEU][hapmap]
rs13361121	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs13362523	0.84[CEU][hapmap]
rs1378262	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454982	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16766	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[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]
rs17146665	1.00[JPT][hapmap]
rs17146705	0.95[ASN][1000 genomes]
rs17491078	0.84[CEU][hapmap]
rs1823926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1823927	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap]
rs2601209	1.00[JPT][hapmap]
rs2601211	0.86[YRI][hapmap]
rs2604164	0.87[YRI][hapmap]
rs2604165	0.80[YRI][hapmap]
rs2655066	0.84[ASN][1000 genomes]
rs2655067	0.86[YRI][hapmap]
rs2655069	0.81[YRI][hapmap]
rs2691097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs2691100	1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs300956	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs300957	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs3991306	1.00[ASN][1000 genomes]
rs4476747	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4895160	0.85[CEU][hapmap]
rs6595239	0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs6865123	0.84[ASN][1000 genomes]
rs6882134	0.82[AFR][1000 genomes]
rs6892665	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6895369	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[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]
rs7706025	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs7710004	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]
rs7710626	0.87[AFR][1000 genomes]
rs7710848	0.86[YRI][hapmap]
rs7710928	0.85[YRI][hapmap]
rs7715549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7728098	0.88[AFR][1000 genomes]
rs7733602	0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs921782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs9327145	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327146	0.84[YRI][hapmap];0.91[AFR][1000 genomes]
rs9687538	1.00[ASN][1000 genomes]

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	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
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119836400-119852400	Weak transcription	HSMM	muscle
2	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
3	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
4	chr5:119843400-119848000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:119844000-119846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:119844000-119847800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:119844200-119846600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:119844200-119847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:119844600-119847400	Enhancers	K562	blood
11	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:119845200-119846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:119845200-119846800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:119845200-119846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:119845200-119847600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:119845200-119847600	Weak transcription	Fetal Lung	lung
17	chr5:119845400-119846800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:119845400-119847000	Enhancers	NHDF-Ad	bronchial
19	chr5:119845400-119847600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:119845600-119846800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:119845800-119847000	Enhancers	Osteobl	bone
22	chr5:119846000-119847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:119846000-119847200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:119846000-119847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:119846200-119848200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:119846200-119849000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:119846400-119847000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:119846400-119847400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links