Variant report

Variant	rs2972534
Chromosome Location	chr19:36736931-36736932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10416729	0.92[ASN][1000 genomes]
rs11673662	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12460237	0.82[ASN][1000 genomes]
rs12608941	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1898675	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432040	0.86[ASN][1000 genomes]
rs2432044	0.88[ASN][1000 genomes]
rs2432046	0.92[ASN][1000 genomes]
rs2432048	0.92[ASN][1000 genomes]
rs2432050	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432053	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2438515	0.85[ASN][1000 genomes]
rs2438516	0.91[ASN][1000 genomes]
rs2910681	0.92[ASN][1000 genomes]
rs2918322	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918323	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2918324	0.90[ASN][1000 genomes]
rs2918325	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918326	0.81[EUR][1000 genomes]
rs2918328	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918329	0.85[ASN][1000 genomes]
rs2918331	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2918334	0.81[AMR][1000 genomes]
rs2918355	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2918356	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2918358	0.82[AMR][1000 genomes]
rs2918376	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2918377	0.92[ASN][1000 genomes]
rs2918381	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918382	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918383	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2918384	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972320	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972528	0.84[ASN][1000 genomes]
rs2972530	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972532	0.90[ASN][1000 genomes]
rs2972533	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972535	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972536	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972540	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972543	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2972548	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2972550	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2972551	0.85[AMR][1000 genomes]
rs4293497	0.89[ASN][1000 genomes]
rs4315447	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4805169	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4805170	0.84[ASN][1000 genomes]
rs4806289	0.85[ASN][1000 genomes]
rs7254149	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9797716	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2972534	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36730400-36748400	Weak transcription	HSMMtube	muscle
2	chr19:36734600-36737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36734800-36737400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:36734800-36737600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:36735600-36737200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr19:36735800-36737000	Active TSS	Brain Angular Gyrus	brain
7	chr19:36735800-36737000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:36735800-36737000	Active TSS	NHLF	lung
9	chr19:36735800-36737200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:36735800-36737400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:36735800-36737400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:36735800-36737400	Active TSS	Rectal Smooth Muscle	rectum
13	chr19:36735800-36737600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:36735800-36737600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:36735800-36737600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:36735800-36737800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr19:36736000-36737000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:36736000-36737000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:36736000-36737000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:36736000-36737000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:36736000-36737000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr19:36736000-36737000	Active TSS	Brain Hippocampus Middle	brain
23	chr19:36736000-36737000	Active TSS	Fetal Kidney	kidney
24	chr19:36736000-36737200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:36736000-36737200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:36736000-36737200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:36736000-36737200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr19:36736000-36737200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr19:36736000-36737200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr19:36736000-36737200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr19:36736000-36737200	Flanking Active TSS	Right Ventricle	heart
32	chr19:36736000-36737400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:36736000-36737400	ZNF genes & repeats	Lung	lung
34	chr19:36736000-36737400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr19:36736000-36737400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr19:36736000-36737400	ZNF genes & repeats	Spleen	Spleen
37	chr19:36736000-36737600	ZNF genes & repeats	Pancreas	Pancrea
38	chr19:36736000-36737800	ZNF genes & repeats	Liver	Liver
39	chr19:36736200-36737000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr19:36736200-36737000	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr19:36736200-36737200	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr19:36736200-36737200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr19:36736200-36737200	ZNF genes & repeats	Gastric	stomach
44	chr19:36736200-36737200	Flanking Active TSS	Left Ventricle	heart
45	chr19:36736200-36737400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr19:36736200-36737400	ZNF genes & repeats	Esophagus	oesophagus
47	chr19:36736200-36737400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr19:36736200-36737600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr19:36736200-36746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:36736400-36737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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