Variant report

Variant	rs9837726
Chromosome Location	chr3:76092747-76092748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11917746	0.85[AMR][1000 genomes]
rs12714847	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1471994	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1489090	0.83[AMR][1000 genomes]
rs1489091	0.84[AMR][1000 genomes]
rs1489092	0.81[AMR][1000 genomes]
rs1489093	0.81[AMR][1000 genomes]
rs1489096	0.81[AMR][1000 genomes]
rs1489097	0.81[AMR][1000 genomes]
rs1489098	0.87[AMR][1000 genomes]
rs1489099	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1968951	0.81[AMR][1000 genomes]
rs2171638	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2220458	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2324470	0.87[AMR][1000 genomes]
rs2324471	0.87[AMR][1000 genomes]
rs4260451	0.81[AMR][1000 genomes]
rs4449327	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4484199	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4624567	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4856004	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549831	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6549832	0.83[AMR][1000 genomes]
rs6770732	0.81[ASN][1000 genomes]
rs6776686	0.81[AMR][1000 genomes]
rs6776915	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6778177	0.83[AMR][1000 genomes]
rs6780227	0.86[AMR][1000 genomes]
rs6780479	0.83[AMR][1000 genomes]
rs6780798	0.83[AMR][1000 genomes]
rs6783384	0.86[AMR][1000 genomes]
rs6786288	0.81[ASN][1000 genomes]
rs7610010	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7620001	0.82[AMR][1000 genomes]
rs7625148	0.89[AMR][1000 genomes]
rs7653310	0.87[AMR][1000 genomes]
rs9754680	0.83[AMR][1000 genomes]
rs9755934	0.82[AMR][1000 genomes]
rs9755939	0.83[AMR][1000 genomes]
rs9812834	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9814169	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9815982	0.83[AMR][1000 genomes]
rs9824924	0.83[AMR][1000 genomes]
rs9833136	0.82[AMR][1000 genomes]
rs9852030	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9853890	0.82[AMR][1000 genomes]
rs9879542	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763279	chr3:75958155-76107685	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876995	chr3:76015252-76114539	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1012705	chr3:76047819-76276542	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv998038	chr3:76053664-76218646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536591	chr3:76053664-76218646	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1007586	chr3:76053664-76280612	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv979847	chr3:76058868-76143057	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv999868	chr3:76068393-76274977	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv869827	chr3:76074846-76142916	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2760774	chr3:76076446-76097994	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv432458	chr3:76077110-76119510	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv818152	chr3:76077143-76094221	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2757876	chr3:76077290-76167295	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3462052	chr3:76083579-76096297	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3462049	chr3:76083632-76096137	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3462050	chr3:76083641-76096126	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3462053	chr3:76083641-76096126	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv517731	chr3:76083946-76094221	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv2422055	chr3:76083946-76096571	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv518802	chr3:76083946-76101757	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1009175	chr3:76084525-76103687	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv999298	chr3:76084525-76105554	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9837726	EBLN2	cis	cerebellum	SCAN
rs9837726	FAM86DP	cis	cerebellum	SCAN
rs9837726	RYBP	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76089000-76092800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:76089000-76095400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:76089200-76093200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:76089200-76093800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:76089200-76094400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:76089800-76094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:76090000-76093200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:76090200-76094200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:76090400-76099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:76090600-76099800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:76090800-76094000	Weak transcription	NH-A	brain
12	chr3:76091000-76094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:76091200-76093800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:76091200-76094000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:76092000-76094200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:76092200-76093000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:76092400-76094000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:76092400-76094200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:76092600-76093200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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