Variant report

Variant	rs1396778
Chromosome Location	chr2:210505082-210505083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174385	0.92[EUR][1000 genomes]
rs10179315	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10203283	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10208961	0.85[EUR][1000 genomes]
rs1039826	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10497931	0.92[EUR][1000 genomes]
rs12694187	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12988159	0.85[EUR][1000 genomes]
rs13000863	0.92[EUR][1000 genomes]
rs13382265	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13412699	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13423655	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13432941	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1509467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509471	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843236	0.85[EUR][1000 genomes]
rs1828281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1949041	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1962197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1967262	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063292	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2663644	0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2663656	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710476	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28517694	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60751322	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6435533	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6752060	1.00[EUR][1000 genomes]
rs7566048	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603837	0.85[EUR][1000 genomes]
rs9288411	1.00[EUR][1000 genomes]
rs992991	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210494800-210517800	Weak transcription	Aorta	Aorta
2	chr2:210496200-210506800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:210496200-210507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210501000-210517800	Weak transcription	Fetal Brain Female	brain
5	chr2:210501200-210508000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:210501200-210516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:210501800-210517800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:210502800-210506000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:210502800-210506800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:210502800-210508000	Enhancers	HMEC	breast
11	chr2:210503000-210507400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:210503000-210508000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:210503000-210508400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:210503200-210506600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:210503200-210506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:210503600-210505400	Weak transcription	NHDF-Ad	bronchial
17	chr2:210503600-210506800	Weak transcription	A549	lung
18	chr2:210503600-210517800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:210503800-210507000	Weak transcription	NH-A	brain
20	chr2:210504000-210506800	Weak transcription	HUVEC	blood vessel
21	chr2:210504000-210507000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:210504400-210505400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:210504600-210508200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:210504800-210508400	Enhancers	NHEK	skin
25	chr2:210505000-210508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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