Variant report

Variant	rs12614582
Chromosome Location	chr2:77317636-77317637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10174161	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11126580	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126582	0.84[EUR][1000 genomes]
rs11126583	0.80[EUR][1000 genomes]
rs11126586	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11126588	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11126589	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11889639	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11900222	0.82[AMR][1000 genomes]
rs13421983	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13422002	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13431979	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1374391	0.81[EUR][1000 genomes]
rs1374395	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1823131	0.82[AMR][1000 genomes]
rs1921733	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2860082	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2860940	0.87[EUR][1000 genomes]
rs2860941	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28739330	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34356658	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4455181	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55855347	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56050325	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56120121	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56125553	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56242614	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56356710	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56357290	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59731212	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62168766	0.85[AMR][1000 genomes]
rs6547121	0.82[EUR][1000 genomes]
rs6721925	0.84[EUR][1000 genomes]
rs6746253	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6750737	0.84[EUR][1000 genomes]
rs715280	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7586460	0.84[EUR][1000 genomes]
rs957839	0.83[AMR][1000 genomes];0.87[EUR][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	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
7	esv3422511	chr2:77313346-77335432	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	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
9	esv3328997	chr2:77316346-77335432	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	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	chr2:77314400-77321200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:77315200-77318200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:77315200-77318200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77315200-77319000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:77315200-77320200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:77315200-77321600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:77315400-77319600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:77315400-77321000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:77316200-77318200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr2:77317000-77318200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
11	chr2:77317000-77319800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
12	chr2:77317200-77318000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:77317200-77319600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
14	chr2:77317400-77318000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
15	chr2:77317600-77318200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
16	chr2:77317600-77318800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell

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