Variant report

Variant	rs62161511
Chromosome Location	chr2:77856619-77856620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12052760	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62161523	0.81[EUR][1000 genomes]
rs7421671	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv834268	chr2:77786202-77932056	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv582259	chr2:77787896-77857764	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv874341	chr2:77787896-77909563	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv874343	chr2:77848881-77899045	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2757810	chr2:77855098-78101551	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2759067	chr2:77855098-78101551	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77852800-77856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:77854200-77857200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:77856200-77856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:77856200-77856800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:77856200-77857000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:77856200-77857400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:77856400-77856800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:77856400-77856800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:77856600-77857000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:77856600-77857200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:77856600-77857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:77856600-77857400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:77856600-77857400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:77856600-77857400	Enhancers	Fetal Heart	heart
15	chr2:77856600-77857400	Enhancers	HepG2	liver

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

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