Variant report

Variant	rs2198475
Chromosome Location	chr2:210361711-210361712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173260	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10208979	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1031461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737939	0.94[ASN][1000 genomes]
rs10737940	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686346	0.99[ASN][1000 genomes]
rs11687844	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12052799	0.95[ASN][1000 genomes]
rs12053460	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2123700	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198476	0.99[ASN][1000 genomes]
rs2198477	0.99[ASN][1000 genomes]
rs2198478	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2219085	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2365657	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2365658	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288046	0.95[ASN][1000 genomes]
rs288052	0.80[CEU][hapmap]
rs288062	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs288064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs288065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs288067	1.00[ASN][1000 genomes]
rs288068	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2886435	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2886436	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672554	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4673481	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4673482	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6435530	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6435531	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6728378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738205	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6740822	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559831	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7561678	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs7562585	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7568354	0.95[ASN][1000 genomes]
rs7574854	0.98[ASN][1000 genomes]
rs7580512	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7586196	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7593377	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7601095	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs852734	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9288409	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs997109	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];0.94[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210358600-210362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:210359200-210361800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:210359600-210362200	Enhancers	Hela-S3	cervix
4	chr2:210360000-210361800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:210360000-210361800	Enhancers	NHEK	skin
6	chr2:210360000-210363200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:210360200-210361800	Enhancers	Osteobl	bone
8	chr2:210360200-210362000	Enhancers	Fetal Heart	heart
9	chr2:210360200-210363200	Weak transcription	Right Ventricle	heart
10	chr2:210360200-210366000	Weak transcription	Psoas Muscle	Psoas
11	chr2:210360200-210366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:210360400-210363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:210360400-210363400	Weak transcription	Pancreas	Pancrea
14	chr2:210360800-210361800	Enhancers	HMEC	breast
15	chr2:210361000-210361800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:210361000-210361800	Weak transcription	Fetal Brain Female	brain
17	chr2:210361000-210363000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:210361000-210363000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:210361200-210361800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:210361200-210362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:210361200-210363200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:210361400-210361800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:210361400-210361800	Enhancers	A549	lung
24	chr2:210361400-210361800	Enhancers	HSMMtube	muscle
25	chr2:210361400-210361800	Enhancers	NH-A	brain
26	chr2:210361400-210362000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:210361400-210362200	Enhancers	Left Ventricle	heart
28	chr2:210361600-210361800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:210361600-210362000	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr2:210361600-210362600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:210361600-210362600	Enhancers	HUVEC	blood vessel
32	chr2:210361600-210362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:210361600-210363000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:210361600-210363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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