Variant report

Variant	rs4486703
Chromosome Location	chr12:67017230-67017231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10784558	0.92[ASN][1000 genomes]
rs10878464	0.92[ASN][1000 genomes]
rs10878467	0.92[ASN][1000 genomes]
rs11176328	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2029693	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4477518	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4913276	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6581707	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6581708	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6650228	0.92[ASN][1000 genomes]
rs7131878	0.91[ASN][1000 genomes]
rs7300749	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953305	0.93[ASN][1000 genomes]
rs7953441	0.93[ASN][1000 genomes]
rs7968118	0.93[ASN][1000 genomes]
rs7968697	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974153	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975376	0.92[ASN][1000 genomes]
rs7978501	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67010800-67020600	Weak transcription	Thymus	Thymus
2	chr12:67010800-67021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:67011200-67020800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:67014400-67021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:67015400-67022000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:67016000-67017400	Enhancers	GM12878-XiMat	blood
7	chr12:67016400-67017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:67016600-67017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:67016600-67020200	Enhancers	Primary B cells from cord blood	blood
10	chr12:67017000-67017600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:67017000-67017800	Enhancers	HUVEC	blood vessel
12	chr12:67017000-67018000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:67017000-67018000	Enhancers	NHEK	skin
14	chr12:67017200-67017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:67017200-67017600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:67017200-67017600	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:67017200-67017600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:67017200-67017600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:67017200-67017600	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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