Variant report

Variant	rs7608820
Chromosome Location	chr2:183493891-183493892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10181566	0.83[ASN][1000 genomes]
rs10181740	0.83[ASN][1000 genomes]
rs10211579	0.82[ASN][1000 genomes]
rs10497611	0.82[ASN][1000 genomes]
rs10931027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13400613	0.82[ASN][1000 genomes]
rs16823465	0.89[ASN][1000 genomes]
rs16823466	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2178104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55878744	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58682569	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67791366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67910515	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72625272	0.89[ASN][1000 genomes]
rs7355517	0.89[ASN][1000 genomes]
rs7560943	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7608726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv999603	chr2:183465151-183551522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv962120	chr2:183486499-183495489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183486000-183495800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:183486200-183495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:183491000-183496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:183491000-183501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:183491200-183495800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:183491200-183495800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:183491400-183495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:183491400-183495800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:183491400-183496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:183493400-183494000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:183493600-183494000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:183493600-183494000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:183493600-183494000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:183493600-183494000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:183493600-183494000	Enhancers	K562	blood
16	chr2:183493600-183494200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:183493600-183494800	Enhancers	Fetal Brain Female	brain
18	chr2:183493600-183501400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:183493800-183494000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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