Variant report

Variant	rs548288652
Chromosome Location	chr12:63207599-63207600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62975555..62976174-chr12:63206937..63207657,2	MCF-7	breast:
2	chr12:63206234..63209842-chr12:63325867..63329850,5	MCF-7	breast:
3	chr12:63206735..63207639-chr12:63377173..63378137,2	MCF-7	breast:
4	chr12:63205779..63208274-chr12:63327328..63329891,3	MCF-7	breast:
5	chr12:63206702..63209353-chr12:63327262..63329339,2	K562	blood:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3374133	chr12:63207117-63207640	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63196000-63225800	Weak transcription	Gastric	stomach
9	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:63205800-63211400	Weak transcription	K562	blood
11	chr12:63206400-63208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:63206800-63207600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:63206800-63207600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:63206800-63207600	Enhancers	Liver	Liver
17	chr12:63206800-63207600	Flanking Active TSS	Dnd41	blood
18	chr12:63207200-63207600	Enhancers	Primary T cells from cord blood	blood
19	chr12:63207200-63207600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:63207200-63207600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:63207200-63207600	Enhancers	Brain Hippocampus Middle	brain
22	chr12:63207200-63207600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:63207200-63207600	Enhancers	Brain Substantia Nigra	brain
24	chr12:63207200-63207600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:63207200-63208200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:63207200-63209000	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:63207200-63209000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:63207200-63209000	Weak transcription	Left Ventricle	heart
29	chr12:63207200-63210600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:63207200-63210600	Weak transcription	Fetal Kidney	kidney
31	chr12:63207200-63210600	Weak transcription	Osteobl	bone
32	chr12:63207200-63211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:63207200-63211200	Weak transcription	Brain Angular Gyrus	brain
34	chr12:63207200-63211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:63207200-63211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:63207200-63211400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:63207200-63211400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:63207200-63211400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:63207200-63211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:63207200-63211400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:63207200-63211400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:63207200-63211400	Weak transcription	Aorta	Aorta
43	chr12:63207200-63211400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:63207200-63211400	Weak transcription	Ovary	ovary
45	chr12:63207200-63211400	Weak transcription	Psoas Muscle	Psoas
46	chr12:63207200-63211600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:63207200-63211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:63207200-63211600	Weak transcription	Thymus	Thymus
49	chr12:63207200-63221000	Weak transcription	HepG2	liver
50	chr12:63207200-63228600	Weak transcription	A549	lung

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