Variant report

Variant	rs17110489
Chromosome Location	chr12:72348006-72348007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72343465..72346078-chr12:72346330..72349169,2	K562	blood:
2	chr12:72235542..72238265-chr12:72346952..72349318,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1023990	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs10506645	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap]
rs10506646	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs10879350	0.84[CEU][hapmap]
rs11179002	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs11179023	0.94[CEU][hapmap];0.80[CHB][hapmap]
rs11179027	0.84[CEU][hapmap]
rs11179033	0.89[CEU][hapmap]
rs11834114	0.84[CEU][hapmap]
rs12229394	0.84[CEU][hapmap]
rs12319219	0.84[CEU][hapmap]
rs1386491	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1487278	0.88[CEU][hapmap]
rs17110477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17110532	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs17110536	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs17110540	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs17110627	0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs17110690	0.88[CEU][hapmap]
rs57706328	0.81[ASN][1000 genomes]
rs60032326	0.81[ASN][1000 genomes]
rs73140697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73142538	0.81[ASN][1000 genomes]
rs7955501	0.95[JPT][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72341600-72349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:72344000-72351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:72344800-72351800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:72344800-72351800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:72346400-72348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:72346600-72350800	Weak transcription	NHLF	lung
7	chr12:72347000-72349000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:72347000-72352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:72347200-72351400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:72347400-72348200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:72347400-72349400	Enhancers	Liver	Liver
12	chr12:72347400-72349600	Enhancers	HepG2	liver
13	chr12:72347600-72351800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:72347600-72351800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:72347800-72348200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:72347800-72348400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:72348000-72348200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:72348000-72348200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:72348000-72348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:72348000-72349400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:72348000-72349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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