Variant report

Variant	rs2977020
Chromosome Location	chr8:52321243-52321244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10096044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104348	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550699	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13282560	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1367820	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560511	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1811360	0.82[EUR][1000 genomes]
rs1975113	0.82[EUR][1000 genomes]
rs2082279	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915492	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2915493	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2915495	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2915502	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915504	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915505	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2976998	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2976999	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2977000	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2977001	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2977002	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2977003	0.93[CEU][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2977005	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2977008	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2977010	0.83[ASW][hapmap];0.87[LWK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2977012	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2977015	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097700	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3097702	0.93[CEU][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4873548	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004184	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs961353	0.93[CEU][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs972026	0.84[LWK][hapmap]

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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2977020	RB1CC1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52316800-52342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:52318000-52321600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:52319600-52322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:52319600-52323800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:52320600-52322200	Strong transcription	Right Ventricle	heart
6	chr8:52320800-52321400	ZNF genes & repeats	Fetal Stomach	stomach
7	chr8:52320800-52321600	ZNF genes & repeats	Pancreas	Pancrea
8	chr8:52320800-52322200	Strong transcription	Left Ventricle	heart
9	chr8:52321000-52321800	ZNF genes & repeats	Aorta	Aorta
10	chr8:52321200-52321600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:52321200-52322000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links