Variant report

Variant	rs139150846
Chromosome Location	chr12:51641876-51641877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
2	chr12:51440029..51443353-chr12:51638009..51641957,3	MCF-7	breast:
3	chr12:51640501..51643365-chr12:51664040..51666792,2	K562	blood:
4	chr12:51494199..51498284-chr12:51638570..51642133,3	K562	blood:
5	chr12:51638552..51640559-chr12:51641323..51644888,4	MCF-7	breast:
6	chr12:51608943..51615058-chr12:51635250..51642835,14	K562	blood:
7	chr12:51640991..51642656-chr12:51660376..51662126,2	K562	blood:

Variant related genes	Relation type
ENSG00000135457	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000184271	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv3324940	chr12:51640852-51648054	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51635200-51647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:51636200-51642200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:51636200-51643200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
5	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:51639200-51642000	Genic enhancers	Placenta	Placenta
8	chr12:51639200-51642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:51639200-51642800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:51639200-51644600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:51639400-51642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:51639400-51642600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:51639400-51642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:51639400-51642800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:51639600-51642400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:51639600-51642600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:51639800-51642000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:51639800-51642400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:51639800-51642400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:51639800-51643000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:51639800-51643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:51639800-51643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:51639800-51646600	Weak transcription	Aorta	Aorta
24	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
25	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
26	chr12:51640000-51642200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:51640000-51642200	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:51640000-51643200	Enhancers	Spleen	Spleen
29	chr12:51640000-51656400	Weak transcription	A549	lung
30	chr12:51640200-51642000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:51640200-51642000	Enhancers	Fetal Thymus	thymus
32	chr12:51640200-51642200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:51640200-51642200	Enhancers	Right Ventricle	heart
34	chr12:51640200-51642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:51640200-51642600	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:51640200-51643200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
38	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
40	chr12:51640400-51642000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:51640400-51642000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:51640400-51642400	Enhancers	Primary B cells from cord blood	blood
43	chr12:51640400-51643000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:51640400-51643400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:51640400-51651000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:51640400-51659000	Weak transcription	HMEC	breast
47	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:51640600-51642000	Enhancers	Adipose Nuclei	Adipose
49	chr12:51640600-51642200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:51640600-51642600	Weak transcription	HSMM	muscle

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