Variant report

Variant	rs2977010
Chromosome Location	chr8:52311233-52311234
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	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10104348	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1219680	0.82[ASW][hapmap];0.82[LWK][hapmap]
rs13282560	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367820	0.82[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1560511	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082279	0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2116349	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915492	0.82[CEU][hapmap]
rs2915493	0.82[CEU][hapmap]
rs2915495	0.82[CEU][hapmap]
rs2915502	0.86[AMR][1000 genomes]
rs2915504	0.85[AMR][1000 genomes]
rs2915505	0.82[CEU][hapmap]
rs2976998	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs2976999	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs2977000	0.86[CEU][hapmap]
rs2977001	0.82[CEU][hapmap]
rs2977002	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs2977003	0.91[ASW][hapmap];0.82[CEU][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2977005	0.82[CEU][hapmap]
rs2977008	1.00[ASW][hapmap];0.82[CEU][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2977012	0.82[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2977015	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2977020	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]
rs3097700	0.85[AMR][1000 genomes]
rs3097702	0.82[CEU][hapmap]
rs4873548	0.83[EUR][1000 genomes]
rs7004184	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298444	0.82[ASW][hapmap];0.80[LWK][hapmap]
rs961353	0.91[ASW][hapmap];0.82[CEU][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs972026	0.91[ASW][hapmap];0.87[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
rs2977010	RB1CC1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52307000-52312400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:52307600-52320600	Weak transcription	Right Ventricle	heart
3	chr8:52308600-52317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:52309000-52312400	Weak transcription	Gastric	stomach
5	chr8:52309000-52318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:52309000-52319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:52309400-52316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:52310200-52311400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:52310200-52312400	Enhancers	NH-A	brain
10	chr8:52310400-52312200	Enhancers	NHDF-Ad	bronchial
11	chr8:52310400-52312400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:52310600-52311400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:52310600-52311400	Enhancers	Right Atrium	heart
14	chr8:52310600-52312200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:52310600-52312400	Enhancers	Osteobl	bone
16	chr8:52310800-52311400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:52310800-52311400	Enhancers	Fetal Stomach	stomach
18	chr8:52310800-52311400	Enhancers	NHLF	lung
19	chr8:52310800-52311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:52310800-52311600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:52310800-52311800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:52311000-52317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:52311000-52321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:52311200-52318400	Weak transcription	Left Ventricle	heart

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