Variant report

Variant	rs10209947
Chromosome Location	chr2:77739653-77739654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10185975	0.97[ASN][1000 genomes]
rs11892926	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13024591	0.95[ASN][1000 genomes]
rs1344256	0.81[ASN][1000 genomes]
rs1922812	0.80[ASN][1000 genomes]
rs1922821	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1922823	0.98[ASN][1000 genomes]
rs1955403	0.99[ASN][1000 genomes]
rs5007084	0.99[ASN][1000 genomes]
rs6547145	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713282	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874333	chr2:77315349-77798886	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv874338	chr2:77683562-77747513	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv874339	chr2:77683562-77872197	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv874340	chr2:77730014-77786509	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77730400-77740200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:77735200-77740200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:77739000-77740600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:77739000-77740600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:77739200-77739800	Enhancers	Fetal Brain Female	brain
6	chr2:77739200-77740200	Enhancers	Brain Hippocampus Middle	brain
7	chr2:77739200-77740400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:77739200-77740400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:77739200-77740600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:77739400-77740600	Enhancers	Fetal Brain Male	brain
11	chr2:77739400-77741000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:77739600-77739800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:77739600-77740200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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