Variant report

Variant	nsv186836
Chromosome Location	chr21:47516918-47516919
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	chr21:47516659-47519152	IMR90	lung:	n/a	chr21:47518331-47518341 chr21:47518082-47518093
2	POLR2A	chr21:47516819-47517039	Gliobla	brain:	n/a	n/a
3	POLR2A	chr21:47516892-47522038	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
COL6A2	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 36 )

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	rs10534807	chr21:47516918-47516919	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1475914	chr21:47516919-47516920	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised 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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
2	chr21:47511400-47517600	Weak transcription	Pancreas	Pancrea
3	chr21:47513200-47517000	Weak transcription	Aorta	Aorta
4	chr21:47513200-47517200	Weak transcription	HSMM	muscle
5	chr21:47513200-47517200	Weak transcription	HSMMtube	muscle
6	chr21:47513400-47517000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:47513600-47517000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:47514600-47518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:47515000-47517000	Enhancers	Spleen	Spleen
10	chr21:47515000-47517200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:47515400-47517000	Enhancers	Right Ventricle	heart
12	chr21:47515600-47517000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:47515600-47517200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:47516400-47517000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:47516400-47517000	Bivalent Enhancer	Placenta	Placenta
16	chr21:47516400-47517400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47516400-47517800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr21:47516400-47519600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr21:47516600-47517000	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr21:47516600-47517000	Weak transcription	Ovary	ovary
21	chr21:47516600-47517000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
22	chr21:47516600-47517200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:47516600-47517200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47516600-47517200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:47516600-47517200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:47516600-47517200	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr21:47516600-47517200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr21:47516800-47517000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:47516800-47517000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:47516800-47517000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:47516800-47517000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr21:47516800-47517000	Flanking Active TSS	Fetal Kidney	kidney
33	chr21:47516800-47517000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr21:47516800-47517000	Enhancers	Fetal Stomach	stomach
35	chr21:47516800-47517000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr21:47516800-47517200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr21:47516800-47517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:47516800-47517200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr21:47516800-47517200	Bivalent/Poised TSS	Fetal Brain Male	brain
40	chr21:47516800-47517200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr21:47516800-47517200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
42	chr21:47516800-47517200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr21:47516800-47517400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:47516800-47517400	Flanking Active TSS	Osteobl	bone
45	chr21:47516800-47517600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:47516800-47517600	Flanking Active TSS	NH-A	brain
47	chr21:47516800-47517600	Flanking Active TSS	NHLF	lung
48	chr21:47516800-47518000	Enhancers	Lung	lung
49	chr21:47516800-47518800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links