Variant report

Variant	rs1511815
Chromosome Location	chr4:74751431-74751432
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	chr4:74746733..74749613-chr4:74751019..74753569,2	K562	blood:
2	chr4:74748840..74751609-chr4:74903470..74906256,2	K562	blood:

Variant related genes	Relation type
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10007249	0.90[EUR][1000 genomes]
rs10518117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11574452	1.00[CEU][hapmap]
rs12108606	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1429637	0.83[EUR][1000 genomes]
rs1435520	1.00[CEU][hapmap]
rs149611	0.93[EUR][1000 genomes]
rs16845091	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16850160	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16850178	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16850360	0.85[CEU][hapmap]
rs1951233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145614	0.85[CEU][hapmap]
rs2180883	0.85[CEU][hapmap]
rs2195543	0.83[EUR][1000 genomes]
rs2367427	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3111693	0.85[CEU][hapmap]
rs3117602	0.85[CEU][hapmap]
rs352036	0.93[EUR][1000 genomes]
rs353028	0.93[EUR][1000 genomes]
rs353029	0.86[EUR][1000 genomes]
rs353031	0.90[EUR][1000 genomes]
rs353032	0.80[EUR][1000 genomes]
rs353034	0.90[EUR][1000 genomes]
rs353039	0.90[EUR][1000 genomes]
rs353040	0.90[EUR][1000 genomes]
rs353042	1.00[CEU][hapmap]
rs3756074	1.00[CEU][hapmap]
rs4082827	0.83[EUR][1000 genomes]
rs499141	0.90[EUR][1000 genomes]
rs529312	0.90[EUR][1000 genomes]
rs57274239	0.93[EUR][1000 genomes]
rs58324794	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58463118	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585778	0.90[EUR][1000 genomes]
rs58610473	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60775930	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61412577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629315	0.90[EUR][1000 genomes]
rs671253	0.97[EUR][1000 genomes]
rs6813952	0.87[CEU][hapmap]
rs7656335	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7666671	0.90[EUR][1000 genomes]
rs938094	0.93[EUR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74747600-74752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:74748200-74752000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:74749600-74751600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:74749600-74756800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:74749600-74756800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:74749800-74751600	Weak transcription	HSMM	muscle
7	chr4:74750600-74752200	Enhancers	NHDF-Ad	bronchial
8	chr4:74750600-74752200	Enhancers	NHEK	skin
9	chr4:74751000-74752000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74751000-74752200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:74751000-74752200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:74751200-74752000	Enhancers	Osteobl	bone
13	chr4:74751200-74752200	Enhancers	K562	blood
14	chr4:74751200-74752200	Enhancers	NH-A	brain
15	chr4:74751400-74751800	Enhancers	Stomach Mucosa	stomach
16	chr4:74751400-74751800	Flanking Active TSS	Hela-S3	cervix
17	chr4:74751400-74752000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:74751400-74752000	Enhancers	NHLF	lung
19	chr4:74751400-74752200	Enhancers	HMEC	breast

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