Variant report

Variant	rs7955501
Chromosome Location	chr12:72350026-72350027
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1023990	0.91[JPT][hapmap]
rs10506645	0.91[JPT][hapmap]
rs10879345	0.92[CEU][hapmap]
rs10879346	0.92[CEU][hapmap]
rs10879351	0.84[CEU][hapmap]
rs10879352	0.87[CEU][hapmap]
rs11179039	0.84[CEU][hapmap]
rs12322900	0.92[CEU][hapmap]
rs1386491	0.86[JPT][hapmap]
rs1386498	0.82[CEU][hapmap]
rs17110477	1.00[JPT][hapmap]
rs17110489	0.95[JPT][hapmap]
rs17110532	0.90[JPT][hapmap]
rs17110536	0.85[JPT][hapmap]
rs17110540	0.85[JPT][hapmap]
rs17110627	0.86[JPT][hapmap]
rs1843809	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs1843811	0.88[CEU][hapmap]
rs2171363	0.92[CEU][hapmap]
rs2368049	0.83[CEU][hapmap]
rs3903502	0.87[CEU][hapmap]
rs4641528	0.92[CEU][hapmap]
rs4760750	0.87[CEU][hapmap]
rs4760754	0.92[CEU][hapmap]
rs4760755	0.92[CEU][hapmap]
rs4760816	0.92[CEU][hapmap]
rs4760817	0.92[CEU][hapmap]
rs6582073	0.92[CEU][hapmap]
rs6582077	0.92[CEU][hapmap]
rs6582078	0.84[CEU][hapmap]
rs7305115	0.92[CEU][hapmap]
rs7309686	0.92[CEU][hapmap]
rs7963720	0.92[CEU][hapmap]
rs7967686	0.91[CEU][hapmap]
rs7969114	0.91[CEU][hapmap]
rs7979770	0.92[CEU][hapmap]
rs9325202	0.87[CEU][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72344000-72351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:72344800-72351800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:72344800-72351800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:72346600-72350800	Weak transcription	NHLF	lung
5	chr12:72347000-72352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:72347200-72351400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:72347600-72351800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:72347600-72351800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:72348200-72352000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:72348400-72351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:72348400-72352000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:72348400-72352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:72349000-72352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:72349200-72350200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:72349200-72350200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:72349200-72351800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:72349400-72351400	Weak transcription	Liver	Liver
18	chr12:72349400-72351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:72349600-72350200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:72349600-72351600	Weak transcription	HepG2	liver
21	chr12:72349800-72350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:72349800-72350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:72350000-72352000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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