Variant report

Variant	rs13345491
Chromosome Location	chr19:37473099-37473100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10403679	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424584	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426135	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11084871	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11667146	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11670216	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11673192	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12151313	0.87[EUR][1000 genomes]
rs1423047	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1644638	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1644640	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1644641	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1644642	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1644643	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1644645	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1644711	0.81[AMR][1000 genomes]
rs1667331	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667340	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667343	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971873	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971886	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1726719	0.81[AMR][1000 genomes]
rs1879497	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2011475	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2547055	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2551047	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2562587	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35011739	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3745768	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3745770	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs472226	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs474017	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs475026	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs484001	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs485034	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs494804	0.80[AMR][1000 genomes]
rs496872	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504549	0.81[EUR][1000 genomes]
rs505717	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs508361	0.84[EUR][1000 genomes]
rs510757	0.80[EUR][1000 genomes]
rs513406	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs517110	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs519551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs519606	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs524802	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs528504	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs529468	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs540451	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs544543	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs547483	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs550017	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs551717	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55792845	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55921822	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56161518	0.83[EUR][1000 genomes]
rs56208574	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56248021	0.82[EUR][1000 genomes]
rs565721	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs567796	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs568654	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs569371	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs703530	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs703535	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs703537	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7247589	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7248693	0.81[EUR][1000 genomes]
rs7252230	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7254616	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256001	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256213	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7256876	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7257126	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259513	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs734381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8104919	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8106386	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8107192	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8108727	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8110696	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826262	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs826289	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs826290	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs826294	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs826296	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826303	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826304	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826307	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826314	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826322	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826323	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9676450	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13345491	AC012309.5	cis	Thyroid	GTEx
rs13345491	ZNF585B	cis	Artery Tibial	GTEx
rs13345491	AC012309.5	cis	Heart Left Ventricle	GTEx
rs13345491	AC012309.5	cis	Esophagus Muscularis	GTEx
rs13345491	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs13345491	AC012309.5	cis	Artery Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37464800-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
3	chr19:37465000-37473600	Weak transcription	Small Intestine	intestine
4	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
5	chr19:37465200-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:37465200-37476800	Weak transcription	NH-A	brain
7	chr19:37465200-37481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:37465200-37482600	Weak transcription	Right Ventricle	heart
9	chr19:37465400-37473800	Weak transcription	Spleen	Spleen
10	chr19:37465400-37483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:37465400-37483600	Weak transcription	Fetal Heart	heart
12	chr19:37465600-37474200	Weak transcription	Colonic Mucosa	Colon
13	chr19:37465600-37482400	Weak transcription	Fetal Kidney	kidney
14	chr19:37467000-37474600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:37468400-37474400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:37468400-37474400	ZNF genes & repeats	Liver	Liver
17	chr19:37468800-37473400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:37468800-37487800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:37469000-37473200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:37469000-37474000	Weak transcription	NHDF-Ad	bronchial
21	chr19:37469200-37473800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:37469400-37479200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:37469800-37474000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:37469800-37474200	Weak transcription	Lung	lung
25	chr19:37469800-37477600	Weak transcription	Aorta	Aorta
26	chr19:37470400-37477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:37470400-37477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:37470600-37482200	Weak transcription	Psoas Muscle	Psoas
29	chr19:37470800-37473200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:37471600-37474400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr19:37471800-37473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:37471800-37476400	Weak transcription	Primary B cells from cord blood	blood
33	chr19:37471800-37478000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:37471800-37480400	Weak transcription	Gastric	stomach
35	chr19:37471800-37480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:37471800-37482000	Weak transcription	Left Ventricle	heart
37	chr19:37471800-37482600	Weak transcription	Brain Substantia Nigra	brain
38	chr19:37472000-37473400	Strong transcription	Ovary	ovary
39	chr19:37472000-37473800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:37472000-37474200	Weak transcription	Adipose Nuclei	Adipose
41	chr19:37472000-37474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:37472000-37476600	Weak transcription	Fetal Stomach	stomach
43	chr19:37472000-37477000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:37472000-37477600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:37472000-37477600	Weak transcription	Fetal Brain Female	brain
46	chr19:37472000-37477800	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:37472000-37479200	Weak transcription	Pancreas	Pancrea
48	chr19:37472000-37479400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:37472000-37481600	Weak transcription	Brain Anterior Caudate	brain
50	chr19:37472000-37483600	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links