Variant report

Variant	rs12642514
Chromosome Location	chr4:90629397-90629398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003708	0.95[ASN][1000 genomes]
rs10033209	0.94[ASN][1000 genomes]
rs10433953	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1045722	0.94[ASN][1000 genomes]
rs10516844	0.97[ASN][1000 genomes]
rs11931074	0.97[ASN][1000 genomes]
rs11945223	0.95[ASN][1000 genomes]
rs12640100	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17016071	0.94[ASN][1000 genomes]
rs28393675	0.92[ASN][1000 genomes]
rs28412513	0.94[ASN][1000 genomes]
rs28613708	0.93[ASN][1000 genomes]
rs35541731	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356165	0.94[ASN][1000 genomes]
rs356203	0.94[ASN][1000 genomes]
rs356219	0.95[ASN][1000 genomes]
rs3756054	0.94[ASN][1000 genomes]
rs3775422	0.92[ASN][1000 genomes]
rs3775423	0.94[ASN][1000 genomes]
rs3775424	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3775427	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3796661	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3822086	0.94[ASN][1000 genomes]
rs3857049	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3857051	0.95[ASN][1000 genomes]
rs3857052	0.94[ASN][1000 genomes]
rs3857053	0.94[ASN][1000 genomes]
rs3857057	0.94[ASN][1000 genomes]
rs3857058	0.94[ASN][1000 genomes]
rs3857059	0.94[ASN][1000 genomes]
rs4088093	0.94[ASN][1000 genomes]
rs4088094	0.94[ASN][1000 genomes]
rs4122861	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61032876	0.95[ASN][1000 genomes]
rs6818319	0.94[ASN][1000 genomes]
rs73831461	0.97[ASN][1000 genomes]
rs7436973	0.94[ASN][1000 genomes]
rs7655792	0.95[ASN][1000 genomes]
rs7661330	0.94[ASN][1000 genomes]
rs7675290	0.94[ASN][1000 genomes]
rs7681312	0.97[ASN][1000 genomes]
rs7681815	0.97[ASN][1000 genomes]
rs7684318	0.94[ASN][1000 genomes]
rs8180209	0.94[ASN][1000 genomes]
rs8180214	0.92[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv461580	chr4:90572322-90630901	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv594819	chr4:90572322-90630901	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv522681	chr4:90603044-90630901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90609800-90631800	Weak transcription	HMEC	breast
2	chr4:90616600-90630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:90628400-90630000	Enhancers	Dnd41	blood
4	chr4:90628400-90631400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:90628600-90629400	Enhancers	Fetal Thymus	thymus
6	chr4:90628600-90630800	Enhancers	Primary T cells from cord blood	blood
7	chr4:90628600-90631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:90628800-90630000	Weak transcription	Thymus	Thymus
9	chr4:90629000-90629400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:90629000-90630000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:90629000-90630400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:90629200-90631400	Enhancers	HUVEC	blood vessel

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