Variant report

Variant	rs62321728
Chromosome Location	chr4:102786341-102786342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102266269..102272575-chr4:102784697..102788612,6	MCF-7	breast:
2	chr4:102748202..102750922-chr4:102785267..102786848,2	MCF-7	breast:
3	chr4:102781326..102782926-chr4:102784724..102787064,2	MCF-7	breast:
4	chr4:102778161..102781257-chr4:102784070..102788412,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254531	Chromatin interaction
ENSG00000138814	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10516484	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12498977	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500010	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500743	0.87[EUR][1000 genomes]
rs12501163	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512304	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13103373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13106011	0.80[EUR][1000 genomes]
rs13107723	0.82[EUR][1000 genomes]
rs13109260	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13111489	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13120877	0.82[EUR][1000 genomes]
rs13121706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13127559	0.80[EUR][1000 genomes]
rs13128847	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13135361	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13137047	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13140171	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1345568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1421624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469019	0.82[EUR][1000 genomes]
rs17031755	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17031758	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17031771	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17031789	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2544574	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2851316	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34118030	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34125672	0.80[EUR][1000 genomes]
rs34397140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35013900	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35190155	0.80[EUR][1000 genomes]
rs35205296	0.92[EUR][1000 genomes]
rs35400474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35418410	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35507621	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35618358	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35916449	0.81[EUR][1000 genomes]
rs35926162	0.80[EUR][1000 genomes]
rs36005813	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41507945	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4635818	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61465450	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321672	0.84[EUR][1000 genomes]
rs62321737	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321738	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62322688	0.83[EUR][1000 genomes]
rs71597114	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102774000-102786800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr4:102784000-102786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:102784000-102793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:102785400-102790600	Strong transcription	Primary B cells from cord blood	blood
5	chr4:102785600-102786400	Enhancers	A549	lung
6	chr4:102785600-102786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:102785600-102786800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:102785800-102786800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:102786000-102786600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:102786000-102786800	Enhancers	Placenta	Placenta
11	chr4:102786000-102787400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:102786200-102786800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:102786200-102786800	Enhancers	NH-A	brain
14	chr4:102786200-102787200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr4:102786200-102787400	Enhancers	HepG2	liver
16	chr4:102786200-102787800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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