Variant report

Variant	rs12578293
Chromosome Location	chr12:12165010-12165011
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2448045	1.00[AMR][1000 genomes]
rs56947818	0.87[AFR][1000 genomes]
rs57740632	1.00[AMR][1000 genomes]
rs58878427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72550786	1.00[AMR][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	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
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12160200-12165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12160800-12165400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:12161600-12165200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12162200-12165800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:12162400-12165600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:12162800-12165400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:12163000-12165600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:12163600-12171600	Weak transcription	Gastric	stomach
9	chr12:12163800-12165600	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:12163800-12165600	Enhancers	Fetal Thymus	thymus
11	chr12:12163800-12165800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:12163800-12169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:12163800-12169600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:12163800-12171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:12164000-12165200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:12164000-12165200	Enhancers	Primary T cells from cord blood	blood
17	chr12:12164000-12165800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:12164000-12166200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:12164000-12169000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:12164000-12171400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:12164200-12165800	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:12164200-12165800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:12164200-12169800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:12164200-12171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:12164400-12166000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:12164400-12168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:12164400-12169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:12164400-12169400	Weak transcription	Fetal Heart	heart
29	chr12:12164400-12169600	Weak transcription	Brain Anterior Caudate	brain
30	chr12:12164400-12171000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:12164400-12171200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:12164600-12165400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:12164600-12165400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:12164600-12165600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:12164600-12166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:12164600-12166000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:12164600-12166000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:12164600-12166400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:12164600-12168200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:12164600-12168200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:12164600-12168400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:12164600-12169200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:12164600-12169200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:12164600-12169200	Weak transcription	Lung	lung
45	chr12:12164600-12169200	Weak transcription	Osteobl	bone
46	chr12:12164600-12169400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:12164600-12169400	Weak transcription	HMEC	breast
48	chr12:12164600-12169600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:12164600-12169600	Weak transcription	NH-A	brain
50	chr12:12164600-12171200	Weak transcription	Right Atrium	heart

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