Variant report

Variant	rs8104374
Chromosome Location	chr19:44992568-44992569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11881628	0.89[ASN][1000 genomes]
rs12611267	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17727484	0.80[ASN][1000 genomes]
rs2020083	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293164	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2571108	0.90[ASN][1000 genomes]
rs2571109	0.90[ASN][1000 genomes]
rs2686759	0.91[ASN][1000 genomes]
rs3745146	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3745147	0.96[ASN][1000 genomes]
rs4141695	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57946353	0.85[AMR][1000 genomes]
rs60625660	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs954313	0.94[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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44967200-44992800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:44977200-44992800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:44977800-44992600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr19:44977800-44992600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:44977800-44992600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44978000-44992600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44978000-44992800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:44978400-44992600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44978400-44993600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:44978800-45003400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr19:44980800-44992600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:44981000-44992600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr19:44983400-44992800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr19:44989000-44997000	Weak transcription	Hela-S3	cervix
15	chr19:44989200-44996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44990400-44995000	Weak transcription	Osteobl	bone
17	chr19:44990600-44992800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:44990600-44992800	ZNF genes & repeats	Aorta	Aorta
19	chr19:44990600-44993000	ZNF genes & repeats	Ovary	ovary
20	chr19:44990800-44992800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:44990800-44992800	ZNF genes & repeats	Esophagus	oesophagus
22	chr19:44990800-44992800	ZNF genes & repeats	Fetal Stomach	stomach
23	chr19:44990800-44992800	ZNF genes & repeats	Left Ventricle	heart
24	chr19:44990800-44993600	Weak transcription	K562	blood
25	chr19:44991600-44992800	ZNF genes & repeats	Pancreas	Pancrea
26	chr19:44991600-44993200	ZNF genes & repeats	Lung	lung
27	chr19:44991800-44994000	Weak transcription	HepG2	liver
28	chr19:44991800-44994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:44991800-44994400	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:44991800-44994800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:44991800-44994800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:44991800-44995000	Weak transcription	HSMM	muscle
33	chr19:44991800-44995200	Weak transcription	HSMMtube	muscle
34	chr19:44991800-44996000	Weak transcription	Fetal Heart	heart
35	chr19:44992000-44993200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:44992000-44994000	Weak transcription	Brain Germinal Matrix	brain
37	chr19:44992000-44994000	Weak transcription	Fetal Kidney	kidney
38	chr19:44992000-44994000	Weak transcription	A549	lung
39	chr19:44992000-44994000	Weak transcription	GM12878-XiMat	blood
40	chr19:44992000-44994200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:44992000-44994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:44992000-44994200	Weak transcription	Primary T cells from cord blood	blood
43	chr19:44992000-44994200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:44992000-44994200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:44992000-44994400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:44992000-44994400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:44992000-44994400	Weak transcription	Right Ventricle	heart
48	chr19:44992000-44994800	Weak transcription	NHEK	skin
49	chr19:44992000-44995000	Weak transcription	Brain Angular Gyrus	brain
50	chr19:44992000-44995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links