Variant report

Variant	rs1363751
Chromosome Location	chr19:37460174-37460175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs1016216	0.93[EUR][1000 genomes]
rs10413322	0.86[EUR][1000 genomes]
rs10414520	0.83[EUR][1000 genomes]
rs10421398	0.91[EUR][1000 genomes]
rs10421415	0.91[EUR][1000 genomes]
rs10421509	0.83[EUR][1000 genomes]
rs11881645	0.83[EUR][1000 genomes]
rs1227564	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1345748	0.91[EUR][1000 genomes]
rs1363752	0.91[EUR][1000 genomes]
rs1363753	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1375476	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375477	0.95[EUR][1000 genomes]
rs1449200	0.92[EUR][1000 genomes]
rs1449201	0.92[EUR][1000 genomes]
rs1579314	0.91[EUR][1000 genomes]
rs1612652	0.92[EUR][1000 genomes]
rs1621329	0.92[EUR][1000 genomes]
rs1623796	0.92[EUR][1000 genomes]
rs1624087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625963	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1626675	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643418	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1644634	0.85[EUR][1000 genomes]
rs1644637	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1644647	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1644648	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1644649	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1644650	1.00[EUR][1000 genomes]
rs1644651	1.00[EUR][1000 genomes]
rs1644652	0.95[EUR][1000 genomes]
rs1644654	0.94[EUR][1000 genomes]
rs1644656	0.94[EUR][1000 genomes]
rs1644657	0.93[EUR][1000 genomes]
rs1644658	0.93[EUR][1000 genomes]
rs1644659	0.90[EUR][1000 genomes]
rs1644661	0.93[EUR][1000 genomes]
rs1644662	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1644663	0.92[EUR][1000 genomes]
rs1644665	0.92[EUR][1000 genomes]
rs1644666	0.92[EUR][1000 genomes]
rs1644667	0.92[EUR][1000 genomes]
rs1644668	0.92[EUR][1000 genomes]
rs1644669	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1644670	0.92[EUR][1000 genomes]
rs1644671	0.91[EUR][1000 genomes]
rs1644672	0.92[EUR][1000 genomes]
rs1644673	0.83[EUR][1000 genomes]
rs1644674	0.92[EUR][1000 genomes]
rs1644675	0.92[EUR][1000 genomes]
rs1644676	0.92[EUR][1000 genomes]
rs1644677	0.92[EUR][1000 genomes]
rs1644678	0.92[EUR][1000 genomes]
rs1644679	0.91[EUR][1000 genomes]
rs1644682	0.91[EUR][1000 genomes]
rs1644683	0.91[EUR][1000 genomes]
rs1644684	0.91[EUR][1000 genomes]
rs1644685	0.91[EUR][1000 genomes]
rs1644686	0.91[EUR][1000 genomes]
rs1644687	0.91[EUR][1000 genomes]
rs1644688	0.91[EUR][1000 genomes]
rs1644689	0.91[EUR][1000 genomes]
rs1644690	0.91[EUR][1000 genomes]
rs1644691	0.88[EUR][1000 genomes]
rs1644693	0.91[EUR][1000 genomes]
rs1644695	0.91[EUR][1000 genomes]
rs1644698	0.91[EUR][1000 genomes]
rs1644699	0.83[EUR][1000 genomes]
rs1644700	0.83[EUR][1000 genomes]
rs1667330	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667335	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1667336	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667337	0.95[EUR][1000 genomes]
rs1667341	0.99[EUR][1000 genomes]
rs1667342	0.94[EUR][1000 genomes]
rs1667344	0.94[EUR][1000 genomes]
rs1667346	0.91[EUR][1000 genomes]
rs1667347	0.92[EUR][1000 genomes]
rs1667348	0.93[EUR][1000 genomes]
rs1667349	0.92[EUR][1000 genomes]
rs1667350	0.92[EUR][1000 genomes]
rs1667352	0.92[EUR][1000 genomes]
rs1667353	0.92[EUR][1000 genomes]
rs1667354	0.96[EUR][1000 genomes]
rs1667355	0.91[EUR][1000 genomes]
rs1667356	0.91[EUR][1000 genomes]
rs1667358	0.91[EUR][1000 genomes]
rs1667360	0.91[EUR][1000 genomes]
rs1667363	0.91[EUR][1000 genomes]
rs1667364	0.91[EUR][1000 genomes]
rs1667366	0.91[EUR][1000 genomes]
rs1667367	0.90[EUR][1000 genomes]
rs1667368	0.88[EUR][1000 genomes]
rs1667370	0.84[EUR][1000 genomes]
rs1667371	0.84[EUR][1000 genomes]
rs1667372	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1667377	0.81[EUR][1000 genomes]
rs1667378	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1667379	0.81[EUR][1000 genomes]
rs1667382	0.85[EUR][1000 genomes]
rs1667383	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17206540	0.83[EUR][1000 genomes]
rs1818748	0.83[EUR][1000 genomes]
rs1829603	0.83[EUR][1000 genomes]
rs2082009	0.83[EUR][1000 genomes]
rs2082010	0.83[EUR][1000 genomes]
rs2263166	0.83[EUR][1000 genomes]
rs2432651	0.89[EUR][1000 genomes]
rs2547044	0.91[EUR][1000 genomes]
rs2547045	0.91[EUR][1000 genomes]
rs2547049	0.91[EUR][1000 genomes]
rs2547050	0.90[EUR][1000 genomes]
rs2547051	0.92[EUR][1000 genomes]
rs2547052	0.92[EUR][1000 genomes]
rs2547054	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2551049	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2551053	0.91[EUR][1000 genomes]
rs2551054	0.91[EUR][1000 genomes]
rs2551057	0.82[EUR][1000 genomes]
rs2551060	0.90[EUR][1000 genomes]
rs2551062	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562585	0.83[EUR][1000 genomes]
rs2562591	0.83[EUR][1000 genomes]
rs2562607	0.83[EUR][1000 genomes]
rs2595545	0.92[EUR][1000 genomes]
rs2595546	0.92[EUR][1000 genomes]
rs2595547	0.92[EUR][1000 genomes]
rs2595555	0.81[EUR][1000 genomes]
rs2891766	0.82[EUR][1000 genomes]
rs35524127	0.83[EUR][1000 genomes]
rs36096221	0.83[EUR][1000 genomes]
rs3902013	0.82[EUR][1000 genomes]
rs3929570	0.82[EUR][1000 genomes]
rs4806387	0.81[EUR][1000 genomes]
rs496730	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs500126	0.85[EUR][1000 genomes]
rs5008750	0.92[EUR][1000 genomes]
rs5008751	0.92[EUR][1000 genomes]
rs520288	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs523979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524933	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs533863	0.92[EUR][1000 genomes]
rs538534	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs538649	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540472	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs541966	0.99[EUR][1000 genomes]
rs542729	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs543212	0.86[EUR][1000 genomes]
rs543609	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs544964	0.84[ASN][1000 genomes]
rs546589	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs548077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560480	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs560541	0.85[EUR][1000 genomes]
rs56154134	0.83[EUR][1000 genomes]
rs571294	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs578977	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs580846	0.91[EUR][1000 genomes]
rs6510580	0.83[EUR][1000 genomes]
rs6510585	0.83[EUR][1000 genomes]
rs703531	0.83[EUR][1000 genomes]
rs7245453	0.83[EUR][1000 genomes]
rs7245520	0.83[EUR][1000 genomes]
rs7246720	0.81[EUR][1000 genomes]
rs7246739	0.83[EUR][1000 genomes]
rs7248948	0.83[EUR][1000 genomes]
rs7252167	0.85[EUR][1000 genomes]
rs7253220	0.88[EUR][1000 genomes]
rs7256380	0.83[EUR][1000 genomes]
rs7259605	0.99[EUR][1000 genomes]
rs7260488	0.83[EUR][1000 genomes]
rs8108509	0.83[EUR][1000 genomes]
rs8110158	0.83[EUR][1000 genomes]
rs8113822	0.83[EUR][1000 genomes]
rs826263	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826295	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs826298	0.96[EUR][1000 genomes]
rs826305	0.85[EUR][1000 genomes]
rs826306	0.85[EUR][1000 genomes]
rs826320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826324	0.83[EUR][1000 genomes]
rs826327	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs860392	0.86[EUR][1000 genomes]
rs935706	0.91[EUR][1000 genomes]
rs935707	0.91[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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	esv3322425	chr19:37458912-37463110	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1363751	AC012309.5	cis	Thyroid	GTEx
rs1363751	ZNF585B	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37447800-37463400	Weak transcription	Left Ventricle	heart
2	chr19:37450800-37463200	Weak transcription	Brain Anterior Caudate	brain
3	chr19:37451600-37463400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:37452000-37463200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:37454400-37460200	Weak transcription	Fetal Brain Female	brain
6	chr19:37455400-37463200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:37455600-37463200	Weak transcription	Brain Substantia Nigra	brain
8	chr19:37455600-37463400	Weak transcription	Placenta	Placenta
9	chr19:37456200-37463200	Weak transcription	Fetal Stomach	stomach
10	chr19:37456400-37463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:37456600-37463200	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:37457600-37463200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:37457800-37463200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:37457800-37463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:37458000-37463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:37458000-37463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:37458000-37463600	Weak transcription	Aorta	Aorta
18	chr19:37458000-37463600	Weak transcription	Gastric	stomach
19	chr19:37458000-37463600	Weak transcription	Ovary	ovary
20	chr19:37458000-37463600	Weak transcription	Spleen	Spleen
21	chr19:37458200-37460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:37458600-37463200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:37458800-37463400	Weak transcription	HSMMtube	muscle
24	chr19:37459000-37463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:37459800-37463400	Weak transcription	Right Ventricle	heart

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