Variant report

Variant	rs72940357
Chromosome Location	chr2:206136101-206136102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13424027	0.81[ASN][1000 genomes]
rs1540360	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1921810	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57964434	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737756	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752823	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72936153	0.83[EUR][1000 genomes]
rs72938094	0.87[EUR][1000 genomes]
rs72940317	0.87[EUR][1000 genomes]
rs72940320	0.83[EUR][1000 genomes]
rs72940321	0.85[EUR][1000 genomes]
rs72940337	0.89[EUR][1000 genomes]
rs72940348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
4	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
5	chr2:206132400-206137400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:206132400-206137400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:206132800-206144200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:206133000-206137200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:206133000-206137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:206133000-206137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:206133000-206137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:206133000-206137800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:206134600-206137800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:206134600-206138400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:206134800-206137200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:206134800-206137600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:206134800-206137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:206135200-206136200	Enhancers	HUVEC	blood vessel
19	chr2:206135600-206136200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:206135600-206137400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:206136000-206136200	Enhancers	Fetal Lung	lung
22	chr2:206136000-206137800	Weak transcription	HepG2	liver
23	chr2:206136000-206138000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:206136000-206139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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