Variant report

Variant	rs62322693
Chromosome Location	chr4:102877371-102877372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10516484	0.85[ASN][1000 genomes]
rs12500743	0.81[ASN][1000 genomes]
rs12503000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509274	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12512304	0.81[ASN][1000 genomes]
rs13103373	0.82[ASN][1000 genomes]
rs13106011	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13107723	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13109260	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13111489	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13120877	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128847	0.83[ASN][1000 genomes]
rs13135361	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13137047	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1345568	0.84[ASN][1000 genomes]
rs1421624	0.84[ASN][1000 genomes]
rs17031771	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17031789	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17031810	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544574	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2631241	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631243	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631258	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631272	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2631273	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850376	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850381	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850385	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850386	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2851316	0.87[ASN][1000 genomes]
rs2851326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34397140	0.83[ASN][1000 genomes]
rs35013900	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35190155	1.00[AFR][1000 genomes]
rs35205296	0.81[EUR][1000 genomes]
rs35400474	0.82[ASN][1000 genomes]
rs35418410	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35507621	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35618358	0.82[ASN][1000 genomes]
rs36005813	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4635818	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62321737	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62321738	0.87[ASN][1000 genomes]
rs62322688	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62322690	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71597114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2752360	chr4:102790822-102888822	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102872200-102883400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:102873200-102883600	Strong transcription	Primary B cells from cord blood	blood
4	chr4:102874000-102877600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:102874200-102878000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:102874400-102877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:102875800-102882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:102876200-102877600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:102876400-102878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:102876400-102879800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:102876400-102879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:102876400-102882200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:102876400-102883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:102876600-102877400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:102876800-102878000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:102876800-102887800	Weak transcription	A549	lung

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