Variant report

Variant	rs4626705
Chromosome Location	chr9:17284073-17284074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10810743	0.87[EUR][1000 genomes]
rs10810745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10810746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10810755	0.87[EUR][1000 genomes]
rs10810759	0.87[EUR][1000 genomes]
rs10810762	0.87[EUR][1000 genomes]
rs10810772	0.84[EUR][1000 genomes]
rs10810776	0.85[EUR][1000 genomes]
rs10810780	0.85[EUR][1000 genomes]
rs10962944	0.90[EUR][1000 genomes]
rs10962949	0.90[EUR][1000 genomes]
rs10962956	0.91[EUR][1000 genomes]
rs10962958	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962959	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10962993	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10962994	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10962996	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10962998	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10962999	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963001	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963005	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963015	0.93[EUR][1000 genomes]
rs10963017	0.93[EUR][1000 genomes]
rs10963018	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10963019	0.93[EUR][1000 genomes]
rs10963022	0.93[EUR][1000 genomes]
rs10963025	0.93[EUR][1000 genomes]
rs10963030	0.86[EUR][1000 genomes]
rs10963031	0.87[EUR][1000 genomes]
rs10963036	0.86[EUR][1000 genomes]
rs10963039	0.87[EUR][1000 genomes]
rs10963040	0.87[EUR][1000 genomes]
rs10963041	0.87[EUR][1000 genomes]
rs10963060	0.85[EUR][1000 genomes]
rs10963064	0.85[EUR][1000 genomes]
rs10963065	0.85[EUR][1000 genomes]
rs10963073	0.82[EUR][1000 genomes]
rs10963077	0.80[EUR][1000 genomes]
rs11515075	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11523716	0.91[EUR][1000 genomes]
rs11523726	0.82[EUR][1000 genomes]
rs11789418	0.89[EUR][1000 genomes]
rs11789741	0.87[EUR][1000 genomes]
rs11789786	0.87[EUR][1000 genomes]
rs11791000	0.85[EUR][1000 genomes]
rs11791463	0.88[EUR][1000 genomes]
rs11795325	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12156444	0.80[EUR][1000 genomes]
rs12376505	0.93[EUR][1000 genomes]
rs12376938	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12376973	0.86[EUR][1000 genomes]
rs12377081	0.96[EUR][1000 genomes]
rs12377334	0.85[EUR][1000 genomes]
rs12378677	0.86[EUR][1000 genomes]
rs12379538	0.86[EUR][1000 genomes]
rs12379655	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12551355	0.86[EUR][1000 genomes]
rs12553516	0.85[EUR][1000 genomes]
rs13283291	0.84[EUR][1000 genomes]
rs13283891	0.87[EUR][1000 genomes]
rs13285577	0.83[EUR][1000 genomes]
rs13285704	0.83[EUR][1000 genomes]
rs13286311	0.93[EUR][1000 genomes]
rs13286365	0.83[EUR][1000 genomes]
rs13287407	0.93[EUR][1000 genomes]
rs13289670	0.86[EUR][1000 genomes]
rs13289755	0.88[EUR][1000 genomes]
rs13289968	0.83[EUR][1000 genomes]
rs13290659	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13292365	0.91[EUR][1000 genomes]
rs13292380	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13292550	0.95[EUR][1000 genomes]
rs13301284	0.86[EUR][1000 genomes]
rs1442517	0.81[EUR][1000 genomes]
rs17755748	0.93[EUR][1000 genomes]
rs17828423	0.93[EUR][1000 genomes]
rs17829280	0.86[EUR][1000 genomes]
rs1953106	0.93[EUR][1000 genomes]
rs2027014	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095156	0.96[EUR][1000 genomes]
rs2151342	0.85[EUR][1000 genomes]
rs2184063	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383013	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34189605	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34256131	0.96[EUR][1000 genomes]
rs34502029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34597155	0.90[EUR][1000 genomes]
rs34768018	0.91[EUR][1000 genomes]
rs35375281	0.85[EUR][1000 genomes]
rs35601090	0.85[EUR][1000 genomes]
rs35884270	0.93[EUR][1000 genomes]
rs35968717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35998538	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36063154	0.86[EUR][1000 genomes]
rs36077273	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3739490	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808791	0.93[EUR][1000 genomes]
rs3808795	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4317676	0.87[EUR][1000 genomes]
rs4375098	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4405013	0.86[EUR][1000 genomes]
rs4574939	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4961559	0.82[EUR][1000 genomes]
rs58474114	0.81[EUR][1000 genomes]
rs59833414	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60520802	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61565870	0.92[EUR][1000 genomes]
rs62558297	0.90[EUR][1000 genomes]
rs62558300	0.90[EUR][1000 genomes]
rs62558301	0.90[EUR][1000 genomes]
rs62558320	0.88[EUR][1000 genomes]
rs62558354	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62558357	0.82[EUR][1000 genomes]
rs62558966	0.85[EUR][1000 genomes]
rs7026852	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7028577	0.83[EUR][1000 genomes]
rs7041744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042230	0.96[EUR][1000 genomes]
rs7867175	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892662	chr9:17168867-17329964	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1031269	chr9:17204320-17316969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv466270	chr9:17236376-17377629	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv613694	chr9:17236376-17377629	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv892663	chr9:17243746-17329964	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv892664	chr9:17250170-17296630	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv892665	chr9:17250170-17371690	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv892667	chr9:17269437-17296630	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv613695	chr9:17273731-17348412	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4626705	CNTLN	cis	Nerve Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
2	chr9:17272800-17293000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:17273200-17301800	Weak transcription	Dnd41	blood
4	chr9:17274800-17323200	Weak transcription	Aorta	Aorta
5	chr9:17277000-17293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:17278400-17293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:17278800-17284200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:17279600-17292800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:17281000-17291600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:17281000-17291600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:17281000-17293000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:17281000-17300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:17281200-17284200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:17281200-17286000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr9:17281800-17293000	Weak transcription	Liver	Liver
16	chr9:17281800-17293000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:17282000-17284200	Weak transcription	Ovary	ovary
18	chr9:17282200-17284200	Weak transcription	Fetal Lung	lung
19	chr9:17282200-17293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:17283800-17284400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr9:17284000-17284400	ZNF genes & repeats	Fetal Stomach	stomach
22	chr9:17284000-17284600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr9:17284000-17284600	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr9:17284000-17285000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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