Variant report

Variant	rs58453187
Chromosome Location	chr12:11976463-11976464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11972270..11974612-chr12:11976151..11979593,3	K562	blood:
2	chr12:11974834..11977419-chr12:11984759..11987051,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs55977745	1.00[AMR][1000 genomes]
rs56140733	1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AMR][1000 genomes]
rs59843195	1.00[AMR][1000 genomes]
rs73275248	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060867	1.00[AMR][1000 genomes]
rs74060875	1.00[AMR][1000 genomes]
rs74060876	1.00[AMR][1000 genomes]
rs74060879	1.00[AMR][1000 genomes]
rs74060881	1.00[AMR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11966400-11983000	Weak transcription	Colonic Mucosa	Colon
2	chr12:11966600-11978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:11967200-11982800	Weak transcription	Stomach Mucosa	stomach
4	chr12:11967400-11984000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:11967800-11980200	Weak transcription	Aorta	Aorta
6	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:11971000-11982200	Weak transcription	HepG2	liver
8	chr12:11971400-11986600	Weak transcription	Gastric	stomach
9	chr12:11972200-11979000	Weak transcription	Right Atrium	heart
10	chr12:11973200-11980400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:11974000-11979400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:11974200-11977400	Strong transcription	Fetal Intestine Small	intestine
13	chr12:11974400-11976800	Enhancers	Spleen	Spleen
14	chr12:11974400-11978200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:11974400-11978800	Genic enhancers	Dnd41	blood
16	chr12:11974400-11979200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:11974600-11977000	Enhancers	Small Intestine	intestine
18	chr12:11974600-11977400	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:11974600-11979400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:11974600-11981400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:11974800-11976600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:11974800-11976600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:11974800-11976800	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:11974800-11976800	Enhancers	HMEC	breast
25	chr12:11974800-11977400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:11974800-11977400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:11974800-11977400	Genic enhancers	Primary hematopoietic stem cells	blood
28	chr12:11974800-11977400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:11974800-11977400	Enhancers	Brain Angular Gyrus	brain
30	chr12:11974800-11977400	Enhancers	Brain Substantia Nigra	brain
31	chr12:11974800-11977400	Enhancers	NHLF	lung
32	chr12:11974800-11978200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:11974800-11980200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:11974800-11982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:11975000-11976800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:11975000-11976800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:11975000-11976800	Enhancers	Fetal Brain Male	brain
38	chr12:11975000-11976800	Enhancers	NHDF-Ad	bronchial
39	chr12:11975000-11977000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:11975000-11977200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:11975000-11977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:11975000-11977400	Enhancers	Brain Hippocampus Middle	brain
43	chr12:11975000-11978400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:11975000-11978800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:11975200-11976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:11975200-11976800	Enhancers	Brain Germinal Matrix	brain
47	chr12:11975200-11977000	Enhancers	HSMM	muscle
48	chr12:11975200-11977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:11975200-11977200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:11975200-11977400	Enhancers	Lung	lung

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