Variant report

Variant	rs11179002
Chromosome Location	chr12:72342284-72342285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1023990	0.89[CEU][hapmap]
rs10506645	0.88[CEU][hapmap]
rs10506646	0.88[CEU][hapmap]
rs10879345	1.00[JPT][hapmap]
rs10879346	1.00[JPT][hapmap]
rs10879350	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10879351	0.82[JPT][hapmap]
rs11179023	0.88[CEU][hapmap]
rs11179027	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11179033	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11834097	0.84[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs11834114	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12229394	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12319219	0.89[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12322900	1.00[JPT][hapmap]
rs1386491	0.94[CEU][hapmap]
rs1487278	0.83[CEU][hapmap]
rs1532008	0.87[JPT][hapmap]
rs17110477	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs17110489	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs17110532	0.86[CEU][hapmap]
rs17110536	0.88[CEU][hapmap]
rs17110540	0.88[CEU][hapmap]
rs17110627	0.88[CEU][hapmap]
rs17110690	0.88[CEU][hapmap]
rs1843811	0.91[JPT][hapmap]
rs2171363	1.00[JPT][hapmap]
rs2368049	0.82[JPT][hapmap]
rs4641528	0.87[JPT][hapmap]
rs4760750	0.90[JPT][hapmap]
rs4760754	0.87[JPT][hapmap]
rs4760755	0.87[JPT][hapmap]
rs4760816	0.91[JPT][hapmap]
rs4760817	0.91[JPT][hapmap]
rs6582073	0.91[JPT][hapmap]
rs6582077	0.87[JPT][hapmap]
rs6582078	0.82[JPT][hapmap]
rs7305115	0.91[JPT][hapmap]
rs7309686	0.90[JPT][hapmap]
rs73140697	0.80[EUR][1000 genomes]
rs7963720	0.91[JPT][hapmap]
rs7967686	0.83[JPT][hapmap]
rs7969114	0.91[JPT][hapmap]
rs7979770	0.87[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:28 , 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	chr12:72339800-72342400	Enhancers	Liver	Liver
4	chr12:72340000-72342600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:72340400-72343000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:72340400-72343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:72340400-72343800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:72340600-72342400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:72340600-72342600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:72340600-72342600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:72341400-72342400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:72341400-72342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:72341600-72342400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:72341600-72342400	Enhancers	Brain Germinal Matrix	brain
15	chr12:72341600-72342400	Enhancers	Psoas Muscle	Psoas
16	chr12:72341600-72343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:72341600-72346000	Weak transcription	NHLF	lung
18	chr12:72341600-72349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:72341800-72342600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:72341800-72344600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:72342000-72342400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:72342000-72342400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:72342000-72342600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:72342000-72342600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:72342000-72342600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:72342000-72344000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:72342200-72342800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:72342200-72344600	Enhancers	HUES64 Cell Line	embryonic stem cell

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