Variant report

Variant	rs11179003
Chromosome Location	chr12:72343287-72343288
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	chr12:72343124..72344965-chr12:72345375..72347830,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10879344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179015	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11179017	0.87[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs11179018	0.87[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs11179020	0.88[CHB][hapmap]
rs11179022	0.87[ASW][hapmap];0.88[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11179032	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11179038	1.00[YRI][hapmap]
rs11179041	0.80[GIH][hapmap];0.82[TSI][hapmap]
rs11179045	0.82[TSI][hapmap]
rs11179056	1.00[YRI][hapmap]
rs11179064	1.00[YRI][hapmap]
rs12228247	0.84[EUR][1000 genomes]
rs12230254	1.00[YRI][hapmap]
rs12231408	1.00[JPT][hapmap]
rs12231731	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1386488	1.00[JPT][hapmap]
rs1386492	0.82[JPT][hapmap]
rs1386493	1.00[JPT][hapmap]
rs1843810	0.82[JPT][hapmap]
rs6582072	1.00[JPT][hapmap]
rs7300641	0.82[JPT][hapmap]
rs73342842	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73342876	0.84[EUR][1000 genomes]
rs73342882	0.84[EUR][1000 genomes]
rs7978482	0.82[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:24 , 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	chr12:72340400-72343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:72340400-72343800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:72341600-72343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:72341600-72346000	Weak transcription	NHLF	lung
7	chr12:72341600-72349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:72341800-72344600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:72342000-72344000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:72342200-72344600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:72342400-72343600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:72342400-72344000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:72342400-72344600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:72342400-72347400	Weak transcription	Liver	Liver
15	chr12:72342600-72343600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:72342600-72343600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:72342600-72343800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:72342600-72344600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:72342600-72344800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:72342800-72343400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:72343000-72343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:72343000-72343800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:72343200-72343400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:72343200-72344400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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