Variant report

Variant	rs62170955
Chromosome Location	chr2:77312970-77312971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11694677	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11892997	0.87[EUR][1000 genomes]
rs17334647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820749	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55734526	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55970284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56004848	0.92[EUR][1000 genomes]
rs61197052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62168767	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62168768	0.81[EUR][1000 genomes]
rs62168769	0.81[EUR][1000 genomes]
rs62170918	0.81[EUR][1000 genomes]
rs62170951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62170952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62170957	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62170959	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72807223	0.80[EUR][1000 genomes]
rs72807253	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72807260	0.81[EUR][1000 genomes]
rs7559507	0.93[EUR][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	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
2	nsv1014895	chr2:77263452-77414507	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv458285	chr2:77276201-77345491	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
4	nsv582252	chr2:77276201-77345491	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv874332	chr2:77288585-77387208	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv524535	chr2:77310597-77344652	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77310400-77313200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:77311400-77314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:77311600-77313200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:77311600-77313600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:77311600-77315000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:77312000-77313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:77312600-77313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:77312600-77314000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:77312600-77314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:77312800-77313000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:77312800-77313000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:77312800-77314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:77312800-77314200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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