Variant report

Variant	rs146190393
Chromosome Location	chr12:50634554-50634555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50627929..50630533-chr12:50633901..50635956,2	K562	blood:
2	chr12:50633929..50638139-chr12:50638624..50643008,10	K562	blood:
3	chr12:50633064..50634689-chr12:50675697..50677824,2	MCF-7	breast:
4	chr12:50632639..50636668-chr12:50645758..50650000,5	MCF-7	breast:
5	chr12:50628147..50630548-chr12:50634316..50636856,2	MCF-7	breast:
6	chr12:50627929..50630533-chr12:50633901..50636403,3	K562	blood:
7	chr12:50612032..50614993-chr12:50631813..50634737,2	K562	blood:
8	chr12:50628987..50631090-chr12:50634050..50636155,2	MCF-7	breast:
9	chr12:50596085..50597770-chr12:50634295..50636631,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257531	Chromatin interaction
ENSG00000221604	Chromatin interaction
ENSG00000257256	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
2	chr12:50616400-50636200	Weak transcription	Left Ventricle	heart
3	chr12:50616800-50636400	Weak transcription	Aorta	Aorta
4	chr12:50616800-50641600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:50617000-50636200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:50617400-50634600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:50617400-50635600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:50617600-50638400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:50618600-50636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:50618600-50638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:50618600-50640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:50623000-50638400	Weak transcription	Fetal Brain Female	brain
14	chr12:50627200-50635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:50627600-50644600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:50628800-50634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:50628800-50635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:50628800-50640800	Weak transcription	Esophagus	oesophagus
19	chr12:50629000-50636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:50631400-50638200	Weak transcription	Fetal Stomach	stomach
21	chr12:50631400-50638400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:50633000-50634600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:50633000-50634800	Genic enhancers	Fetal Intestine Large	intestine
24	chr12:50633200-50634600	Enhancers	Right Atrium	heart
25	chr12:50633200-50634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:50633200-50634800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:50633200-50636400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:50633200-50636800	Enhancers	Small Intestine	intestine
29	chr12:50633200-50637600	Enhancers	Fetal Muscle Leg	muscle
30	chr12:50633200-50651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50633400-50635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:50633400-50637200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:50633400-50638400	Enhancers	Placenta	Placenta
34	chr12:50633600-50643400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:50633800-50634600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:50633800-50635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:50633800-50636200	Enhancers	NHDF-Ad	bronchial
38	chr12:50634000-50634600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:50634000-50634600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
40	chr12:50634000-50634600	Enhancers	Spleen	Spleen
41	chr12:50634000-50634800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:50634000-50634800	Genic enhancers	Colonic Mucosa	Colon
43	chr12:50634000-50634800	Enhancers	Gastric	stomach
44	chr12:50634000-50634800	Enhancers	Ovary	ovary
45	chr12:50634000-50634800	Flanking Active TSS	Stomach Mucosa	stomach
46	chr12:50634000-50635000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:50634000-50635000	Enhancers	Psoas Muscle	Psoas
48	chr12:50634000-50635200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:50634000-50635600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:50634000-50635600	Enhancers	Skeletal Muscle Male	skeletal muscle

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