Variant report

Variant	rs370282
Chromosome Location	chr8:90828345-90828346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90827177..90828740-chr8:90829992..90832806,2	MCF-7	breast:
2	chr8:90768759..90772975-chr8:90825090..90828579,3	MCF-7	breast:
3	chr8:90827148..90830083-chr8:90913330..90915459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1003843	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs10095743	0.85[AMR][1000 genomes]
rs10112852	0.85[AMR][1000 genomes]
rs13252917	0.85[AMR][1000 genomes]
rs13259882	0.85[AMR][1000 genomes]
rs13274635	0.83[CEU][hapmap]
rs218905	0.81[AMR][1000 genomes]
rs218907	0.84[AMR][1000 genomes]
rs218908	0.84[AMR][1000 genomes]
rs218909	0.84[AMR][1000 genomes]
rs218913	0.84[AMR][1000 genomes]
rs218914	0.84[AMR][1000 genomes]
rs218925	0.86[AMR][1000 genomes]
rs218929	0.86[AMR][1000 genomes]
rs218932	0.84[AMR][1000 genomes]
rs218934	0.84[AMR][1000 genomes]
rs218936	0.87[AMR][1000 genomes]
rs218938	0.85[CEU][hapmap]
rs2644021	0.85[AMR][1000 genomes]
rs2644033	0.86[AMR][1000 genomes]
rs2735870	0.84[AMR][1000 genomes]
rs2735871	0.86[AMR][1000 genomes]
rs2735873	0.86[AMR][1000 genomes]
rs2735878	0.85[AMR][1000 genomes]
rs2735882	0.85[AMR][1000 genomes]
rs28144	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2975240	0.90[EUR][1000 genomes]
rs367640	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs368812	0.92[EUR][1000 genomes]
rs369771	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs376110	0.93[EUR][1000 genomes]
rs376962	0.86[JPT][hapmap]
rs377897	0.86[JPT][hapmap]
rs380425	0.82[JPT][hapmap]
rs381456	0.86[JPT][hapmap]
rs383592	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs385524	0.86[AMR][1000 genomes]
rs388866	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs390536	0.86[JPT][hapmap]
rs394108	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs39503	0.88[AMR][1000 genomes]
rs39504	0.88[AMR][1000 genomes]
rs39505	0.88[AMR][1000 genomes]
rs39506	0.88[AMR][1000 genomes]
rs39509	0.93[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39515	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39516	0.92[EUR][1000 genomes]
rs397540	0.83[CEU][hapmap]
rs39761	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs39763	0.83[CEU][hapmap]
rs39766	0.85[CEU][hapmap]
rs39767	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs39768	0.91[EUR][1000 genomes]
rs39769	0.92[EUR][1000 genomes]
rs400411	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402434	0.92[EUR][1000 genomes]
rs40247	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40250	0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs402886	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs40379	0.83[CEU][hapmap]
rs40380	0.82[CEU][hapmap]
rs40381	0.84[EUR][1000 genomes]
rs40382	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40452	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs40453	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40454	0.82[CEU][hapmap]
rs40457	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40459	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs40545	0.88[AMR][1000 genomes]
rs40547	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405734	0.86[AMR][1000 genomes]
rs40635	0.83[CEU][hapmap]
rs40636	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40639	0.89[EUR][1000 genomes]
rs410663	0.86[JPT][hapmap]
rs411279	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs411310	0.83[CEU][hapmap]
rs416324	0.92[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs418634	0.82[JPT][hapmap]
rs419754	0.86[AMR][1000 genomes]
rs419890	0.81[ASN][1000 genomes]
rs421411	0.94[EUR][1000 genomes]
rs42186	0.81[ASN][1000 genomes]
rs422559	0.94[EUR][1000 genomes]
rs42343	0.83[CEU][hapmap]
rs42344	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42345	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42480	0.85[CEU][hapmap]
rs42481	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs425140	0.81[JPT][hapmap]
rs427854	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs428484	0.85[CEU][hapmap]
rs43134	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs43135	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs43225	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs43226	0.94[EUR][1000 genomes]
rs43227	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43228	0.93[EUR][1000 genomes]
rs432457	0.86[JPT][hapmap]
rs434264	0.83[CEU][hapmap]
rs435600	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs441548	0.81[EUR][1000 genomes]
rs445172	0.92[EUR][1000 genomes]
rs445675	0.94[EUR][1000 genomes]
rs447611	0.92[EUR][1000 genomes]
rs447618	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs447989	0.82[JPT][hapmap]
rs450332	0.82[CEU][hapmap]
rs452694	0.92[EUR][1000 genomes]
rs453266	0.92[EUR][1000 genomes]
rs454561	0.92[EUR][1000 genomes]
rs465	0.84[AMR][1000 genomes]
rs51331	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.85[AMR][1000 genomes]
rs6992985	0.85[AMR][1000 genomes]
rs6993133	0.85[AMR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv972243	chr8:90823430-90834708	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs370282	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs370282	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs370282	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90824000-90836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:90825400-90829400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90825600-90829000	Weak transcription	NH-A	brain
5	chr8:90825800-90829000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:90826000-90828800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:90826200-90828800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:90826800-90829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:90827800-90828800	Weak transcription	HMEC	breast
10	chr8:90827800-90829200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:90828000-90829000	Weak transcription	NHDF-Ad	bronchial
12	chr8:90828000-90845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:90828200-90828600	Weak transcription	Osteobl	bone

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