Variant report

Variant	rs12814959
Chromosome Location	chr12:105033045-105033046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105031559..105034893-chr12:105035808..105039700,3	K562	blood:
2	chr12:105031820..105034893-chr12:105036488..105039700,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12300833	1.00[CEU][hapmap]
rs12809841	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34004149	0.88[EUR][1000 genomes]
rs34335293	0.81[EUR][1000 genomes]
rs34354414	0.89[EUR][1000 genomes]
rs35548330	0.88[EUR][1000 genomes]
rs35666240	0.94[EUR][1000 genomes]
rs58788113	0.81[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105021000-105037800	Weak transcription	NHEK	skin
6	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:105023000-105036800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:105024600-105044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105024800-105038200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:105026200-105033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:105026800-105036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:105027600-105038000	Weak transcription	Colonic Mucosa	Colon
14	chr12:105027800-105037800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:105028400-105034400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:105029400-105033200	Weak transcription	Fetal Thymus	thymus
17	chr12:105029600-105034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:105030200-105034400	Weak transcription	Thymus	Thymus
19	chr12:105030400-105037400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:105030600-105036600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:105030600-105037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:105030800-105033600	Enhancers	Right Atrium	heart
23	chr12:105030800-105037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:105031400-105033400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:105031400-105033400	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr12:105031400-105033600	Enhancers	Left Ventricle	heart
27	chr12:105031400-105033600	Enhancers	Right Ventricle	heart
28	chr12:105031400-105034600	ZNF genes & repeats	Dnd41	blood
29	chr12:105031600-105034000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:105031800-105033200	Weak transcription	A549	lung
31	chr12:105031800-105033600	Enhancers	Fetal Brain Male	brain
32	chr12:105031800-105033600	Enhancers	Fetal Heart	heart
33	chr12:105031800-105034000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:105031800-105034600	Weak transcription	Lung	lung
35	chr12:105031800-105036800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:105031800-105037000	Weak transcription	K562	blood
37	chr12:105031800-105038400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:105032000-105036800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:105032200-105033200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:105032200-105033400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:105032400-105033600	Enhancers	HSMMtube	muscle
42	chr12:105032400-105034600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:105032400-105036800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:105032400-105037200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:105032400-105037800	Weak transcription	Gastric	stomach
46	chr12:105032400-105037800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:105032600-105035600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr12:105032800-105033400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:105032800-105033400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:105032800-105033400	Enhancers	Skeletal Muscle Female	skeletal muscle

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