Variant report

Variant	rs34850994
Chromosome Location	chr2:210501262-210501263
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:46)

rs_ID	r²[population]
rs10198751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12615372	0.95[ASN][1000 genomes]
rs12616589	0.88[ASN][1000 genomes]
rs12620654	0.82[ASN][1000 genomes]
rs12622979	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12992342	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13419929	0.80[ASN][1000 genomes]
rs1396779	0.89[ASN][1000 genomes]
rs1509465	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1509468	0.81[ASN][1000 genomes]
rs1509469	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1509470	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16843329	0.88[ASN][1000 genomes]
rs2048250	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2366112	0.99[ASN][1000 genomes]
rs2663648	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2663649	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663650	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2663651	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663653	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663659	0.99[ASN][1000 genomes]
rs2710474	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2710475	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710477	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2710479	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2710480	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2710486	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34455059	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35409969	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55911510	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56023260	0.86[ASN][1000 genomes]
rs56775639	0.99[ASN][1000 genomes]
rs56853570	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57781584	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58636345	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59032380	0.99[ASN][1000 genomes]
rs60138527	0.88[ASN][1000 genomes]
rs60359169	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60497472	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6726061	0.89[ASN][1000 genomes]
rs6733319	0.98[ASN][1000 genomes]
rs73071071	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73071085	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs906831	0.99[ASN][1000 genomes]
rs9288410	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs962475	0.97[EUR][1000 genomes];0.88[ASN][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:22 , 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	chr2:210496400-210502200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:210499600-210501800	Enhancers	Brain Germinal Matrix	brain
6	chr2:210499800-210501400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:210500600-210501800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:210501000-210501600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:210501000-210517800	Weak transcription	Fetal Brain Female	brain
10	chr2:210501200-210502800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:210501200-210502800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:210501200-210502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:210501200-210502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:210501200-210502800	Weak transcription	HMEC	breast
15	chr2:210501200-210502800	Weak transcription	NH-A	brain
16	chr2:210501200-210502800	Weak transcription	NHEK	skin
17	chr2:210501200-210503000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:210501200-210503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:210501200-210503000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:210501200-210504200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:210501200-210508000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:210501200-210516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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