Variant report

Variant	rs1823131
Chromosome Location	chr2:77322630-77322631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11126586	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11126588	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11126589	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11889639	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11900222	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12614582	0.82[AMR][1000 genomes]
rs1374391	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1921733	0.80[AMR][1000 genomes]
rs28739330	0.80[AMR][1000 genomes]
rs34356658	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55855347	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56120121	0.81[AMR][1000 genomes]
rs56125553	0.80[AMR][1000 genomes]
rs56242614	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56356710	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56357290	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58449464	0.83[EUR][1000 genomes]
rs59731212	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62168766	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6547121	0.86[ASN][1000 genomes]
rs6721925	0.82[ASN][1000 genomes]
rs6746253	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6750737	0.83[ASN][1000 genomes]
rs7586053	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7586460	0.90[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	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77318000-77329200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77318200-77328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:77319000-77324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:77320200-77329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:77321000-77323200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
6	chr2:77321200-77323200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr2:77321200-77323200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr2:77321200-77323200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr2:77321600-77329200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:77321800-77323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:77322200-77323000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:77322200-77323200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:77322200-77323200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:77322600-77323200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:77322600-77323200	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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