Variant report

Variant	rs12975393
Chromosome Location	chr19:36892591-36892592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12974922	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12974973	0.83[EUR][1000 genomes]
rs12975337	0.90[EUR][1000 genomes]
rs12976232	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12982193	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12983243	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17639717	0.85[EUR][1000 genomes]
rs34288068	0.85[EUR][1000 genomes]
rs34386841	0.85[EUR][1000 genomes]
rs34656490	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34957973	0.90[EUR][1000 genomes]
rs35152981	0.90[EUR][1000 genomes]
rs35186959	0.85[EUR][1000 genomes]
rs35338669	0.85[EUR][1000 genomes]
rs35577694	0.85[EUR][1000 genomes]
rs35669779	0.90[EUR][1000 genomes]
rs35778194	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35951452	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs36026111	0.90[EUR][1000 genomes]
rs4133047	0.90[EUR][1000 genomes]
rs55825342	0.85[EUR][1000 genomes]
rs71354192	0.85[EUR][1000 genomes]
rs71354193	0.81[EUR][1000 genomes]
rs71354194	0.90[EUR][1000 genomes]
rs71354195	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7247321	0.85[EUR][1000 genomes]
rs7256914	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7259940	0.85[EUR][1000 genomes]
rs7260462	0.85[EUR][1000 genomes]
rs8109676	0.90[EUR][1000 genomes]
rs8110644	0.85[EUR][1000 genomes]
rs8111836	0.85[EUR][1000 genomes]
rs8113338	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36880400-36892800	ZNF genes & repeats	Liver	Liver
2	chr19:36880400-36893200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36880400-36904600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36880600-36893000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
5	chr19:36880600-36893200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36881400-36892800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:36882200-36892800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:36882200-36908800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:36882400-36892800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:36882400-36896600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:36882400-36907600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:36882600-36893600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:36882600-36904200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:36882800-36893000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:36883000-36892800	ZNF genes & repeats	Ovary	ovary
16	chr19:36883000-36893000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:36883000-36893400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr19:36883000-36905200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr19:36883200-36892800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:36883600-36893800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:36885600-36908000	Weak transcription	K562	blood
22	chr19:36886200-36893800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:36886400-36901000	Weak transcription	Stomach Mucosa	stomach
24	chr19:36886600-36895200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:36886600-36895200	Weak transcription	Right Ventricle	heart
26	chr19:36886600-36898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:36886800-36895000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:36888400-36892800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:36888400-36893600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:36888400-36893800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:36888400-36901200	Strong transcription	Brain Hippocampus Middle	brain
32	chr19:36888800-36892800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr19:36888800-36893000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:36888800-36893200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:36888800-36893600	Strong transcription	Thymus	Thymus
36	chr19:36888800-36893600	Strong transcription	Osteobl	bone
37	chr19:36888800-36895000	Weak transcription	Fetal Thymus	thymus
38	chr19:36889600-36892800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:36889600-36893000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:36889600-36893200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:36889600-36893600	Strong transcription	Fetal Intestine Large	intestine
42	chr19:36889600-36900200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr19:36889800-36908200	Weak transcription	HepG2	liver
44	chr19:36890000-36892800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36890200-36892800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr19:36890200-36892800	Strong transcription	Brain Angular Gyrus	brain
47	chr19:36890200-36893000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr19:36890400-36893200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:36890400-36893600	Strong transcription	Fetal Brain Male	brain
50	chr19:36890400-36893600	Strong transcription	NHDF-Ad	bronchial

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