Variant report

Variant	rs1667383
Chromosome Location	chr19:37416557-37416558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1227564	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1363751	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1363753	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1375476	0.81[EUR][1000 genomes]
rs1375477	0.81[EUR][1000 genomes]
rs1624087	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1625963	0.81[EUR][1000 genomes]
rs1626675	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1643418	0.85[EUR][1000 genomes]
rs1644637	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1644647	0.85[EUR][1000 genomes]
rs1644650	0.85[EUR][1000 genomes]
rs1644651	0.85[EUR][1000 genomes]
rs1644652	0.81[EUR][1000 genomes]
rs1644662	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1644669	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667330	0.85[EUR][1000 genomes]
rs1667333	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667335	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1667336	0.81[EUR][1000 genomes]
rs1667337	0.81[EUR][1000 genomes]
rs1667341	0.84[EUR][1000 genomes]
rs1667354	0.82[EUR][1000 genomes]
rs1667382	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2547054	0.85[EUR][1000 genomes]
rs2551062	0.85[EUR][1000 genomes]
rs496730	0.86[EUR][1000 genomes]
rs497130	0.94[EUR][1000 genomes]
rs520288	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs523979	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524933	0.86[EUR][1000 genomes]
rs533863	0.91[EUR][1000 genomes]
rs538534	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs538649	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540472	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541966	0.86[EUR][1000 genomes]
rs542729	0.85[EUR][1000 genomes]
rs543212	0.99[EUR][1000 genomes]
rs543609	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544964	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546589	0.86[AFR][1000 genomes]
rs548077	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs560480	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571294	0.85[AFR][1000 genomes]
rs578977	0.85[EUR][1000 genomes]
rs580846	0.94[EUR][1000 genomes]
rs7259605	0.85[EUR][1000 genomes]
rs826263	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826285	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs826295	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs826298	0.89[EUR][1000 genomes]
rs826320	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs860392	0.99[EUR][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	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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	14 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1667383	ZNF585B	cis	Artery Tibial	GTEx
rs1667383	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37436400	Weak transcription	Fetal Thymus	thymus
2	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
3	chr19:37408400-37417000	Weak transcription	Fetal Kidney	kidney
4	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
6	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:37409600-37423600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:37409800-37421400	Weak transcription	Fetal Brain Male	brain
10	chr19:37410600-37416800	Weak transcription	Psoas Muscle	Psoas
11	chr19:37410600-37417200	Weak transcription	NHLF	lung
12	chr19:37410600-37427600	Weak transcription	NH-A	brain
13	chr19:37411600-37418000	Strong transcription	NHDF-Ad	bronchial
14	chr19:37411800-37418600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:37412600-37418600	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr19:37412600-37419600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:37412800-37417400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:37413000-37416600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:37413600-37421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:37413600-37427600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:37413800-37416600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:37413800-37416800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:37413800-37416800	Weak transcription	Lung	lung
24	chr19:37413800-37417000	Strong transcription	Ovary	ovary
25	chr19:37413800-37417200	Weak transcription	Aorta	Aorta
26	chr19:37413800-37417200	Weak transcription	Brain Angular Gyrus	brain
27	chr19:37413800-37417200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:37413800-37417200	Weak transcription	Spleen	Spleen
29	chr19:37413800-37417200	Weak transcription	Dnd41	blood
30	chr19:37413800-37418800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:37413800-37418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:37413800-37418800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:37413800-37420200	Weak transcription	Fetal Stomach	stomach
34	chr19:37413800-37420600	Weak transcription	Pancreas	Pancrea
35	chr19:37413800-37421400	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:37413800-37421800	Weak transcription	Colonic Mucosa	Colon
37	chr19:37413800-37421800	Weak transcription	Esophagus	oesophagus
38	chr19:37413800-37421800	Weak transcription	Fetal Intestine Large	intestine
39	chr19:37413800-37422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:37413800-37422000	Weak transcription	Gastric	stomach
41	chr19:37413800-37422000	Weak transcription	Thymus	Thymus
42	chr19:37413800-37427400	Weak transcription	Right Ventricle	heart
43	chr19:37413800-37427600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:37413800-37427800	Weak transcription	HSMMtube	muscle
45	chr19:37413800-37428000	Weak transcription	HUVEC	blood vessel
46	chr19:37414000-37421600	Weak transcription	Fetal Brain Female	brain
47	chr19:37414200-37416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:37414400-37416800	Weak transcription	Osteobl	bone
49	chr19:37414400-37421800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:37414600-37417000	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links