Variant report

Variant	rs992991
Chromosome Location	chr2:210487388-210487389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10179315	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10203283	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1039826	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12694184	0.85[EUR][1000 genomes]
rs12694187	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988159	1.00[EUR][1000 genomes]
rs13008317	0.92[EUR][1000 genomes]
rs13382265	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404929	0.92[EUR][1000 genomes]
rs13412699	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13423655	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432745	0.85[EUR][1000 genomes]
rs13432941	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1396778	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1509467	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1509471	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16843236	1.00[EUR][1000 genomes]
rs1828281	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1949041	0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1962197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1967262	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2063292	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2663644	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2663656	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2710476	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28517694	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs288072	0.92[EUR][1000 genomes]
rs288075	0.85[EUR][1000 genomes]
rs288076	0.85[EUR][1000 genomes]
rs288077	0.85[EUR][1000 genomes]
rs288080	0.85[EUR][1000 genomes]
rs288085	0.85[EUR][1000 genomes]
rs35568286	0.85[EUR][1000 genomes]
rs56676438	0.85[EUR][1000 genomes]
rs60751322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435533	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752060	0.85[EUR][1000 genomes]
rs71420765	0.92[EUR][1000 genomes]
rs7566048	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7603837	1.00[EUR][1000 genomes]
rs9288411	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754281	chr2:210484777-210543711	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210476600-210493600	Weak transcription	Aorta	Aorta
2	chr2:210480000-210493200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:210481000-210493400	Weak transcription	Pancreas	Pancrea
4	chr2:210481000-210500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:210481400-210493600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210481600-210487800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:210484600-210497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:210484800-210492800	Weak transcription	Fetal Brain Male	brain
9	chr2:210484800-210496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210485000-210489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:210485400-210494400	Weak transcription	Fetal Brain Female	brain
12	chr2:210486400-210488000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:210486400-210489200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:210486600-210493400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:210486800-210488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:210487000-210488600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:210487200-210494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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