Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10048661	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10184102	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10520175	0.86[ASN][1000 genomes]
rs11889881	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11899047	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13384774	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13396539	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13403143	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13414012	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1446719	0.89[ASN][1000 genomes]
rs17013534	0.90[ASN][1000 genomes]
rs17013535	0.90[ASN][1000 genomes]
rs17013563	0.94[ASN][1000 genomes]
rs17013580	0.95[ASN][1000 genomes]
rs28896632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41375150	0.90[ASN][1000 genomes]
rs55765941	0.83[ASN][1000 genomes]
rs57522758	0.96[ASN][1000 genomes]
rs59645157	0.97[ASN][1000 genomes]
rs61335199	0.85[ASN][1000 genomes]
rs7591191	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007408	chr2:77235194-77255152	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3347886	chr2:77245199-77245361	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77232000-77245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:77237000-77245400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77238000-77245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:77243600-77245800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:77243600-77246000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77243600-77246000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:77243600-77246800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:77244000-77246000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:77244200-77246000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:77244200-77246000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:77244400-77245600	Weak transcription	Fetal Lung	lung
12	chr2:77244600-77245800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:77244800-77245600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:77244800-77248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:77244800-77249600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:77244800-77249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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