Variant report

Variant	rs563507883
Chromosome Location	chr12:48341573-48341574
allele	-/ACAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48339969..48342316-chr12:48356625..48358827,2	MCF-7	breast:
2	chr12:48264048..48264830-chr12:48341419..48342254,2	MCF-7	breast:
3	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
4	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
5	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
6	chr12:48098681..48100695-chr12:48339723..48341615,2	K562	blood:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000134291	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446245	chr12:48341425-48341591	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
3	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
4	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48338400-48348800	Enhancers	HMEC	breast
6	chr12:48338800-48341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:48338800-48341600	Enhancers	Fetal Kidney	kidney
8	chr12:48338800-48341600	Enhancers	Placenta	Placenta
9	chr12:48338800-48343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:48339000-48341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:48339200-48342400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:48339800-48341600	Enhancers	Ovary	ovary
13	chr12:48339800-48341800	Enhancers	Fetal Lung	lung
14	chr12:48340000-48341600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:48340200-48341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:48340200-48341600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:48340200-48341600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:48340200-48341600	Enhancers	NHLF	lung
19	chr12:48340200-48341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:48340400-48341600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:48340400-48341800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:48340400-48344200	Enhancers	Esophagus	oesophagus
23	chr12:48340800-48341800	Enhancers	Fetal Muscle Leg	muscle
24	chr12:48340800-48341800	Enhancers	Fetal Stomach	stomach
25	chr12:48340800-48343000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:48340800-48343000	Weak transcription	NHDF-Ad	bronchial
27	chr12:48341000-48341600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:48341000-48341600	Enhancers	Brain Anterior Caudate	brain
29	chr12:48341000-48341800	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:48341000-48343000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:48341000-48343000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48341000-48343000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:48341000-48343000	Weak transcription	A549	lung
34	chr12:48341000-48343000	Weak transcription	Osteobl	bone
35	chr12:48341000-48343200	Weak transcription	Spleen	Spleen
36	chr12:48341000-48344200	Enhancers	HSMM	muscle
37	chr12:48341200-48341600	Enhancers	Hela-S3	cervix
38	chr12:48341200-48341800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:48341200-48341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:48341200-48341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:48341200-48342200	Weak transcription	HepG2	liver
42	chr12:48341200-48342800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:48341200-48342800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:48341200-48343400	Enhancers	NHEK	skin
45	chr12:48341200-48343800	Enhancers	HSMMtube	muscle
46	chr12:48341200-48347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:48341400-48341600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:48341400-48341600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:48341400-48342800	Weak transcription	Colonic Mucosa	Colon
50	chr12:48341400-48343000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links