Variant report

Variant	rs1386488
Chromosome Location	chr12:72344618-72344619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72343124..72344965-chr12:72345375..72347830,2	K562	blood:
2	chr12:72343465..72346078-chr12:72346330..72349169,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10784942	0.85[CEU][hapmap]
rs10784943	0.89[EUR][1000 genomes]
rs10784944	0.85[CEU][hapmap]
rs10879344	1.00[JPT][hapmap]
rs10879347	0.83[EUR][1000 genomes]
rs11179003	1.00[JPT][hapmap]
rs11179004	1.00[JPT][hapmap]
rs11179015	1.00[JPT][hapmap]
rs11179017	1.00[JPT][hapmap]
rs11179018	1.00[JPT][hapmap]
rs11179022	1.00[JPT][hapmap]
rs11179032	1.00[JPT][hapmap]
rs12231408	1.00[JPT][hapmap]
rs12231731	1.00[JPT][hapmap]
rs1386489	0.85[CEU][hapmap]
rs1386492	0.93[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs1386493	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs1386494	0.85[CEU][hapmap]
rs1386496	0.85[CEU][hapmap]
rs1843809	0.85[CEU][hapmap]
rs1843810	0.85[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4760749	0.85[CEU][hapmap]
rs6582072	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7299528	0.89[EUR][1000 genomes]
rs7299582	0.85[CEU][hapmap]
rs7300641	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs7968346	0.85[CEU][hapmap]
rs7978482	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72338000-72344800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:72338200-72345200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:72341600-72346000	Weak transcription	NHLF	lung
4	chr12:72341600-72349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:72342400-72347400	Weak transcription	Liver	Liver
6	chr12:72342600-72344800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:72343400-72345200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:72343800-72347000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:72344000-72344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:72344000-72347400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:72344000-72348000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:72344000-72351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:72344400-72346200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:72344400-72346400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:72344600-72346400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:72344600-72346400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:72344600-72346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:72344600-72346600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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