Variant report

Variant	rs12980482
Chromosome Location	chr19:19792816-19792817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10402516	0.81[ASN][1000 genomes]
rs11670710	0.96[ASN][1000 genomes]
rs12974308	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12976582	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12982049	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12982500	0.97[ASN][1000 genomes]
rs12983292	0.96[ASN][1000 genomes]
rs1433079	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16996227	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2288865	0.81[ASN][1000 genomes]
rs34558847	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35035906	0.82[ASN][1000 genomes]
rs35445661	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35449009	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35792080	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35801717	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3752152	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4808209	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4808979	0.85[ASN][1000 genomes]
rs4808981	0.85[ASN][1000 genomes]
rs7247142	0.89[ASN][1000 genomes]
rs7249670	0.96[ASN][1000 genomes]
rs7251924	0.92[ASN][1000 genomes]
rs74181147	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74181148	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74181149	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74181150	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74181151	0.91[AMR][1000 genomes];0.97[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19780600-19795000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19780800-19795000	ZNF genes & repeats	Fetal Thymus	thymus
3	chr19:19780800-19795000	ZNF genes & repeats	Thymus	Thymus
4	chr19:19781200-19795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:19781400-19793000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:19781400-19793400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:19781600-19795000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr19:19781800-19794400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:19782000-19795000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:19782000-19795600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:19782000-19798200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:19782600-19793800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:19782800-19795000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:19783000-19793400	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:19783000-19795000	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:19783400-19795000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:19785000-19794000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:19785200-19793400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:19786200-19793800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:19787400-19794000	ZNF genes & repeats	Dnd41	blood
21	chr19:19788000-19793200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:19788000-19793200	ZNF genes & repeats	Lung	lung
23	chr19:19788400-19793400	ZNF genes & repeats	Fetal Stomach	stomach
24	chr19:19790400-19793200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:19790400-19794600	Weak transcription	Pancreas	Pancrea
26	chr19:19790600-19793600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:19790800-19794600	Weak transcription	Gastric	stomach
28	chr19:19790800-19797000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:19791000-19793000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr19:19791000-19793600	Weak transcription	Fetal Brain Male	brain
31	chr19:19791000-19793600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:19791000-19793800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:19791000-19794800	Weak transcription	Brain Anterior Caudate	brain
34	chr19:19791000-19798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:19791000-19799200	Weak transcription	Fetal Kidney	kidney
36	chr19:19791000-19802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:19791200-19793600	Weak transcription	Fetal Lung	lung
38	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
39	chr19:19791400-19793000	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:19791400-19794000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:19791600-19794000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:19791800-19794600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:19791800-19794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:19792000-19794600	Weak transcription	Brain Germinal Matrix	brain
46	chr19:19792000-19797200	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:19792200-19793800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:19792200-19793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:19792400-19793000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:19792400-19793000	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links