Variant report

Variant	rs59080597
Chromosome Location	chr2:189228749-189228750
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	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
2	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10153666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10153862	1.00[AMR][1000 genomes]
rs10171583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174521	1.00[AMR][1000 genomes]
rs10184797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185493	0.88[AFR][1000 genomes]
rs10190081	0.88[AFR][1000 genomes]
rs10190630	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197598	1.00[AMR][1000 genomes]
rs10198965	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199401	0.95[AFR][1000 genomes]
rs10207510	1.00[AMR][1000 genomes]
rs10211425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211482	1.00[AMR][1000 genomes]
rs10439261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904835	1.00[AMR][1000 genomes]
rs13386579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390367	1.00[AMR][1000 genomes]
rs13391799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392080	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393442	0.91[AFR][1000 genomes]
rs13399903	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401242	1.00[AMR][1000 genomes]
rs13401321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28528331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667232	1.00[AMR][1000 genomes]
rs6434287	1.00[AMR][1000 genomes]
rs6705869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6710795	1.00[AMR][1000 genomes]
rs6742748	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6755644	1.00[AMR][1000 genomes]
rs6759147	1.00[AMR][1000 genomes]
rs6761280	1.00[AMR][1000 genomes]
rs7589600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288154	0.91[AFR][1000 genomes]
rs9288156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
4	chr2:189217000-189234600	Weak transcription	Psoas Muscle	Psoas
5	chr2:189217400-189228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:189219400-189232000	Weak transcription	Pancreas	Pancrea
8	chr2:189224400-189229200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189225200-189230800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189225400-189228800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:189226000-189229400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:189226200-189229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189227000-189229400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:189227400-189229400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:189227600-189230600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:189228000-189229000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:189228200-189229200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:189228400-189229400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:189228400-189230800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:189228600-189229200	Enhancers	A549	lung
22	chr2:189228600-189229400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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