Variant report

Variant	rs10208979
Chromosome Location	chr2:210335716-210335717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10173260	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1031461	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10737939	0.99[ASN][1000 genomes]
rs10737940	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11686346	0.94[ASN][1000 genomes]
rs11687844	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052799	1.00[ASN][1000 genomes]
rs12053460	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123700	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198475	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2198476	0.94[ASN][1000 genomes]
rs2198477	0.94[ASN][1000 genomes]
rs2198478	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2219085	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2365657	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2365658	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs288046	0.90[ASN][1000 genomes]
rs288048	0.87[EUR][1000 genomes]
rs288049	0.87[EUR][1000 genomes]
rs288052	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs288062	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs288064	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs288065	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs288067	0.95[ASN][1000 genomes]
rs288068	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2886435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886436	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673481	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6435530	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6435531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728378	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6738205	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6740822	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7559831	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7562585	1.00[CEU][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7568354	1.00[ASN][1000 genomes]
rs7574854	0.93[ASN][1000 genomes]
rs7580512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7586196	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601095	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852734	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9288409	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
3	chr2:210322600-210337200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:210328200-210340000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210329600-210339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210332800-210351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:210333600-210335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:210333800-210340800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:210334200-210336000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:210335200-210336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:210335400-210336400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:210335400-210336400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:210335400-210336400	Enhancers	NH-A	brain
14	chr2:210335400-210336400	Enhancers	Osteobl	bone
15	chr2:210335600-210335800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:210335600-210335800	Enhancers	HSMMtube	muscle
17	chr2:210335600-210336000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:210335600-210336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:210335600-210336400	Enhancers	HSMM	muscle
20	chr2:210335600-210336400	Enhancers	HUVEC	blood vessel
21	chr2:210335600-210337600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:210335600-210339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:210335600-210339200	Enhancers	NHEK	skin
24	chr2:210335600-210339400	Enhancers	HMEC	breast
25	chr2:210335600-210342400	Enhancers	Hela-S3	cervix

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