Variant report

Variant	rs2965200
Chromosome Location	chr19:19476365-19476366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19475560..19479223-chr19:19494515..19497733,3	K562	blood:
2	chr19:19475956..19479022-chr19:19487056..19489762,4	MCF-7	breast:
3	chr19:19475888..19481380-chr19:19598435..19602231,6	MCF-7	breast:
4	chr19:19475914..19477803-chr19:19479943..19482008,3	K562	blood:
5	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:
6	chr19:19476043..19479075-chr19:19495694..19499474,5	MCF-7	breast:
7	chr19:19475761..19480142-chr19:19495038..19498469,6	MCF-7	breast:
8	chr19:19475560..19478131-chr19:19494515..19496869,2	K562	blood:
9	chr19:19469711..19473651-chr19:19475756..19478808,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13964	0.82[EUR][1000 genomes]
rs15622	0.82[EUR][1000 genomes]
rs2074088	0.87[EUR][1000 genomes]
rs2315279	0.87[EUR][1000 genomes]
rs2315281	0.86[EUR][1000 genomes]
rs2315283	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2905423	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2905424	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2905425	0.87[EUR][1000 genomes]
rs2905427	0.86[EUR][1000 genomes]
rs2905430	0.85[EUR][1000 genomes]
rs2905431	0.86[EUR][1000 genomes]
rs2905432	0.80[EUR][1000 genomes]
rs2965175	0.81[EUR][1000 genomes]
rs2965180	0.81[EUR][1000 genomes]
rs2965198	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2965199	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34277109	0.84[EUR][1000 genomes]
rs34538000	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35418933	0.84[EUR][1000 genomes]
rs6511030	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511032	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8101499	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
2	chr19:19465200-19483600	Weak transcription	NH-A	brain
3	chr19:19467200-19477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:19468200-19477600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19468400-19477600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:19468400-19478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:19468600-19477600	Weak transcription	Fetal Lung	lung
8	chr19:19469200-19477600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
10	chr19:19469800-19477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19469800-19477400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:19469800-19477600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:19469800-19488400	Weak transcription	Gastric	stomach
14	chr19:19470000-19477400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:19470000-19477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:19470400-19477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:19472200-19477600	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:19475200-19476400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr19:19475200-19476400	Enhancers	Pancreas	Pancrea
20	chr19:19475200-19476400	Flanking Active TSS	Dnd41	blood
21	chr19:19475400-19477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:19475600-19476400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:19475600-19477400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:19475800-19476400	Enhancers	Spleen	Spleen
25	chr19:19475800-19477000	Weak transcription	HMEC	breast
26	chr19:19475800-19477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:19475800-19477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:19475800-19477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:19475800-19477600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
31	chr19:19476000-19476400	Enhancers	Primary B cells from cord blood	blood
32	chr19:19476000-19476400	Enhancers	Primary B cells from peripheral blood	blood
33	chr19:19476000-19476400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:19476000-19476400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:19476000-19476400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr19:19476000-19476400	Flanking Active TSS	HepG2	liver
37	chr19:19476000-19476400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr19:19476000-19476600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:19476000-19476600	Enhancers	Fetal Thymus	thymus
40	chr19:19476000-19477400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:19476000-19477400	Weak transcription	HSMM	muscle
42	chr19:19476000-19477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:19476000-19477600	Weak transcription	Fetal Stomach	stomach
44	chr19:19476000-19477600	Weak transcription	Psoas Muscle	Psoas
45	chr19:19476000-19478200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:19476000-19478200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:19476000-19481800	Weak transcription	NHEK	skin
48	chr19:19476200-19476400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:19476200-19476400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr19:19476200-19476400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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