Variant report

Variant	rs547897234
Chromosome Location	chr12:12014942-12014943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11990610..11993968-chr12:12013101..12016369,3	K562	blood:
2	chr12:11990610..11993601-chr12:12013404..12016369,2	K562	blood:
3	chr12:12014231..12015148-chr12:12106678..12107204,2	MCF-7	breast:
4	chr12:12003194..12007907-chr12:12014129..12016810,4	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
2	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
3	nsv516796	chr12:12013985-12027745	Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
3	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11992600-12015600	Weak transcription	NHLF	lung
5	chr12:11992600-12015800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:11993000-12019000	Weak transcription	A549	lung
7	chr12:11996400-12022600	Weak transcription	HSMM	muscle
8	chr12:12004600-12016600	Weak transcription	Ovary	ovary
9	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:12006200-12015200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:12006800-12015600	Weak transcription	NHDF-Ad	bronchial
12	chr12:12008800-12018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:12009000-12018800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:12009400-12017000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:12009400-12017800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:12009600-12015200	Weak transcription	Small Intestine	intestine
18	chr12:12009600-12016400	Weak transcription	Colonic Mucosa	Colon
19	chr12:12009600-12019400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:12010400-12015400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:12010400-12015800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:12010400-12016200	Weak transcription	Brain Angular Gyrus	brain
23	chr12:12010400-12019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:12010600-12015400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:12010600-12015400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:12010600-12015400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:12010600-12015600	Weak transcription	HSMMtube	muscle
28	chr12:12010600-12019000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:12010800-12015000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:12011000-12015400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:12011000-12016000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:12011000-12018800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:12011400-12015000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:12011400-12017000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:12011600-12015600	Weak transcription	HMEC	breast
36	chr12:12011800-12015400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:12012400-12015400	Enhancers	Colon Smooth Muscle	Colon
38	chr12:12012400-12017200	Enhancers	Left Ventricle	heart
39	chr12:12012400-12017400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:12012600-12015000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:12012600-12015800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:12012600-12015800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:12012600-12016200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:12012600-12016600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:12012600-12017200	Enhancers	Fetal Heart	heart
46	chr12:12012600-12017800	Enhancers	Adipose Nuclei	Adipose
47	chr12:12012800-12015600	Genic enhancers	Fetal Thymus	thymus
48	chr12:12013000-12015400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:12013000-12016600	Enhancers	Liver	Liver
50	chr12:12013000-12017200	Enhancers	Right Atrium	heart

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