Variant report

Variant	esv2105850
Chromosome Location	chr21:47397773-47397774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:47397323-47398871	IMR90	lung:	n/a	chr21:47398447-47398456
2	ZNF143	chr21:47396982-47397994	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47393205..47395473-chr21:47397498..47399697,5	K562	blood:
2	chr21:47388213..47390098-chr21:47396842..47399384,2	MCF-7	breast:
3	chr21:47384997..47386531-chr21:47397126..47399086,2	MCF-7	breast:

Variant related genes	Relation type
COL6A1	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 36 )

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	rs151233285	chr21:47397773-47397774	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47394400-47400400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:47394800-47400800	Weak transcription	Pancreas	Pancrea
3	chr21:47395000-47398400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:47395000-47400600	Weak transcription	Dnd41	blood
5	chr21:47395000-47401000	Enhancers	Fetal Muscle Leg	muscle
6	chr21:47395200-47400600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47395200-47400800	Weak transcription	Left Ventricle	heart
8	chr21:47395200-47401000	Weak transcription	Gastric	stomach
9	chr21:47395200-47401000	Weak transcription	HSMMtube	muscle
10	chr21:47395400-47398000	Weak transcription	Fetal Heart	heart
11	chr21:47395400-47398200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr21:47395400-47398200	Weak transcription	Osteobl	bone
13	chr21:47395400-47398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:47395400-47398600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:47395400-47400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:47395400-47400600	Weak transcription	Adipose Nuclei	Adipose
17	chr21:47395400-47400800	Weak transcription	Right Atrium	heart
18	chr21:47395400-47400800	Weak transcription	HSMM	muscle
19	chr21:47395400-47401000	Weak transcription	HMEC	breast
20	chr21:47395600-47401000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:47395800-47397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:47396600-47398600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:47396600-47399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:47396600-47400600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:47396800-47398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr21:47396800-47399200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:47397000-47399000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:47397000-47399800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:47397200-47397800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr21:47397200-47398800	Bivalent Enhancer	Fetal Lung	lung
31	chr21:47397200-47400600	Enhancers	Rectal Smooth Muscle	rectum
32	chr21:47397400-47398200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:47397400-47398200	Bivalent Enhancer	Fetal Brain Male	brain
34	chr21:47397400-47398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:47397400-47398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr21:47397400-47398600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:47397400-47398600	Enhancers	Fetal Brain Female	brain
38	chr21:47397400-47399400	Enhancers	NH-A	brain
39	chr21:47397400-47400400	Enhancers	NHLF	lung
40	chr21:47397400-47400600	Enhancers	Colon Smooth Muscle	Colon
41	chr21:47397400-47401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:47397600-47398000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:47397600-47398000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr21:47397600-47398000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:47397600-47398000	Weak transcription	NHDF-Ad	bronchial
46	chr21:47397600-47398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:47397600-47398200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:47397600-47398200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:47397600-47398200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:47397600-47398200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links