Variant report

Variant	esv7183
Chromosome Location	chr21:47310990-47311167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47308979..47311967-chr21:47312189..47314453,2	MCF-7	breast:
2	chr21:47307528..47310993-chr21:47318183..47321905,4	K562	blood:
3	chr21:47308842..47311490-chr21:47321844..47323697,2	MCF-7	breast:
4	chr21:46294020..46295642-chr21:47310587..47313582,2	K562	blood:
5	chr21:47304723..47306559-chr21:47309917..47311783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4818808	chr21:47311014-47311015	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542269278	chr21:47311031-47311032	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560671018	chr21:47311050-47311051	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528042494	chr21:47311052-47311053	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72181806	chr21:47311053-47311054	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200141600	chr21:47311054-47311055	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546172603	chr21:47311056-47311057	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202181274	chr21:47311058-47311059	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199664091	chr21:47311077-47311078	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13050066	chr21:47311080-47311081	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13050069	chr21:47311082-47311083	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545708029	chr21:47311084-47311085	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564756114	chr21:47311087-47311088	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190625151	chr21:47311088-47311089	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373152487	chr21:47311091-47311092	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4819164	chr21:47311098-47311099	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182141137	chr21:47311116-47311117	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549466112	chr21:47311127-47311128	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187223820	chr21:47311151-47311152	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive 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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
7	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:47306200-47311600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr21:47306400-47311600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr21:47306400-47311800	Enhancers	Fetal Muscle Leg	muscle
11	chr21:47306800-47311600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:47307000-47311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:47307200-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:47307200-47313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:47307400-47313400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr21:47307600-47311400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:47307600-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:47307600-47313600	Weak transcription	NHDF-Ad	bronchial
19	chr21:47307600-47313800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:47308000-47311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:47308000-47312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
23	chr21:47308200-47314000	Weak transcription	Left Ventricle	heart
24	chr21:47309400-47311800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr21:47309600-47311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:47309600-47311600	Weak transcription	Thymus	Thymus
27	chr21:47309800-47311600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:47310000-47311000	Weak transcription	Spleen	Spleen
29	chr21:47310000-47311400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:47310000-47313600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:47310200-47311400	Weak transcription	Fetal Thymus	thymus
32	chr21:47310200-47311800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr21:47310200-47313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:47310200-47313600	Weak transcription	Brain Substantia Nigra	brain
35	chr21:47310200-47313800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:47310200-47313800	Weak transcription	Brain Hippocampus Middle	brain
37	chr21:47310400-47311400	Weak transcription	Placenta	Placenta
38	chr21:47310400-47311800	Weak transcription	Colonic Mucosa	Colon
39	chr21:47310400-47312000	Weak transcription	Adipose Nuclei	Adipose
40	chr21:47310400-47312600	Weak transcription	HSMMtube	muscle
41	chr21:47310400-47313200	Weak transcription	HSMM	muscle
42	chr21:47310600-47313800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr21:47310800-47313400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:47311000-47311600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:47311000-47313200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr21:47311000-47314600	Enhancers	Spleen	Spleen
47	chr21:47311000-47315400	Bivalent Enhancer	Fetal Stomach	stomach

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