Variant report

Variant	rs34912665
Chromosome Location	chr19:36684969-36684970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10416729	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673662	0.86[ASN][1000 genomes]
rs12460237	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608941	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2432040	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432044	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432046	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432048	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432050	0.82[ASN][1000 genomes]
rs2432053	0.87[ASN][1000 genomes]
rs2438515	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438516	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2910681	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2918322	0.81[ASN][1000 genomes]
rs2918324	0.91[EUR][1000 genomes]
rs2918376	0.87[ASN][1000 genomes]
rs2918377	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2918381	0.86[ASN][1000 genomes]
rs2918384	0.81[ASN][1000 genomes]
rs2972320	0.81[ASN][1000 genomes]
rs2972528	0.90[EUR][1000 genomes]
rs2972532	0.92[EUR][1000 genomes]
rs2972533	0.81[ASN][1000 genomes]
rs2972535	0.86[ASN][1000 genomes]
rs2972540	0.87[ASN][1000 genomes]
rs2972543	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4293497	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4315447	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57614488	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60277419	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6510528	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8107260	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8107616	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
5	nsv579425	chr19:36643695-36685753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34912665	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36661800-36686800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:36669200-36685000	Weak transcription	Stomach Mucosa	stomach
3	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
4	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
5	chr19:36674000-36685200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:36674200-36685000	Weak transcription	Fetal Thymus	thymus
8	chr19:36674200-36685600	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:36674200-36687200	Weak transcription	GM12878-XiMat	blood
10	chr19:36674400-36685200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:36674400-36685200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:36674400-36690000	Weak transcription	NHDF-Ad	bronchial
13	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
14	chr19:36674600-36685000	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36674600-36685000	Weak transcription	Esophagus	oesophagus
16	chr19:36674600-36685000	Weak transcription	Fetal Lung	lung
17	chr19:36674600-36685000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:36674600-36685000	Weak transcription	HSMM	muscle
19	chr19:36674600-36685200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:36674600-36685200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:36674600-36685600	Weak transcription	Colonic Mucosa	Colon
22	chr19:36674600-36685600	Weak transcription	HepG2	liver
23	chr19:36674600-36687200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:36674600-36687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:36674600-36687400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:36674600-36687800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:36674600-36704600	Weak transcription	HMEC	breast
29	chr19:36674600-36704600	Weak transcription	NH-A	brain
30	chr19:36674600-36704600	Weak transcription	NHEK	skin
31	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:36674800-36694400	Weak transcription	Fetal Heart	heart
33	chr19:36682600-36686000	Strong transcription	Lung	lung
34	chr19:36682600-36686200	Strong transcription	Liver	Liver
35	chr19:36682600-36686200	Strong transcription	Brain Angular Gyrus	brain
36	chr19:36682600-36687200	Weak transcription	Hela-S3	cervix
37	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
38	chr19:36682800-36685000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:36682800-36685200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:36682800-36686000	Strong transcription	Fetal Intestine Small	intestine
41	chr19:36682800-36687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36683200-36685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:36683200-36686200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:36683200-36686200	Strong transcription	Fetal Stomach	stomach
45	chr19:36683400-36685000	Weak transcription	A549	lung
46	chr19:36683400-36686000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:36683600-36686000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:36683600-36686200	Strong transcription	Fetal Brain Female	brain
49	chr19:36683800-36686000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:36684400-36686000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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