Variant report

Variant	rs2003205
Chromosome Location	chr9:99916063-99916064
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10759496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857084	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3953686	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4300106	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6477988	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6477993	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831662	chr9:99752521-99939231	Bivalent Enhancer Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv972432	chr9:99874607-99958095	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv973382	chr9:99894731-99916071	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
4	nsv931946	chr9:99895658-100005099	Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv893607	chr9:99906545-99996548	Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893608	chr9:99906545-100005128	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2003205	RP11-23J9.4	cis	Artery Tibial	GTEx
rs2003205	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs2003205	CCDC180	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99901000-99921000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:99909800-99920200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:99911600-99957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:99912200-99921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:99912200-99922800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:99912200-99923800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr9:99913000-99920000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr9:99913000-99924400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:99913200-99923600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:99913200-99924200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:99913400-99918400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:99913400-99924600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:99913400-99930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:99913600-99924200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:99913600-99930800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:99914200-99917000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:99915200-99916600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:99915800-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:99916000-99916800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:99916000-99917600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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