Variant report

Variant	esv1008909
Chromosome Location	chr21:47306059-47306739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47304723..47306559-chr21:47309917..47311783,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533344542	chr21:47306061-47306062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67389247	chr21:47306068-47306069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544033506	chr21:47306079-47306080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75637373	chr21:47306085-47306086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569152233	chr21:47306099-47306100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9984434	chr21:47306107-47306108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67507298	chr21:47306120-47306121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536024000	chr21:47306130-47306131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78000204	chr21:47306134-47306135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77449245	chr21:47306137-47306138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76562364	chr21:47306148-47306149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9976013	chr21:47306156-47306157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566722115	chr21:47306162-47306163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535114607	chr21:47306165-47306166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66706429	chr21:47306169-47306170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58560667	chr21:47306181-47306182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375009253	chr21:47306189-47306190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62211928	chr21:47306208-47306209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67967728	chr21:47306221-47306222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533280022	chr21:47306226-47306227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61367808	chr21:47306238-47306239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9976088	chr21:47306241-47306242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61429947	chr21:47306252-47306253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs113299925	chr21:47306260-47306261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548041405	chr21:47306272-47306273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374038112	chr21:47306273-47306274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58515623	chr21:47306277-47306278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111559302	chr21:47306287-47306288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61103425	chr21:47306290-47306291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59652491	chr21:47306301-47306302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60832189	chr21:47306309-47306310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66880564	chr21:47306322-47306323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59373142	chr21:47306336-47306337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539058092	chr21:47306338-47306339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111310962	chr21:47306358-47306359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370890912	chr21:47306371-47306372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553504557	chr21:47306376-47306377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60723128	chr21:47306388-47306389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369360878	chr21:47306391-47306392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59730750	chr21:47306410-47306411	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs57949899	chr21:47306416-47306417	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181450467	chr21:47306431-47306432	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs61522562	chr21:47306441-47306442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs57834261	chr21:47306447-47306448	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs57198395	chr21:47306462-47306463	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35966364	chr21:47306468-47306469	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs13048273	chr21:47306492-47306493	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs59783914	chr21:47306493-47306494	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs111604492	chr21:47306495-47306496	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs113562833	chr21:47306499-47306500	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47295600-47309200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:47298000-47306600	Weak transcription	NH-A	brain
3	chr21:47300800-47306200	Weak transcription	Right Ventricle	heart
4	chr21:47301000-47306400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:47301000-47306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:47301000-47306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:47301000-47306400	Weak transcription	Brain Substantia Nigra	brain
8	chr21:47301000-47306800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:47301000-47307000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:47301200-47306200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr21:47301200-47306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:47301400-47306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:47301400-47306400	Weak transcription	NHEK	skin
14	chr21:47302800-47306600	Weak transcription	Brain Germinal Matrix	brain
15	chr21:47303000-47306400	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:47303600-47306600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:47303800-47306400	Weak transcription	HSMMtube	muscle
18	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:47304000-47307400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:47304000-47308400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr21:47304400-47306600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr21:47304400-47306800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr21:47304400-47307000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:47304400-47310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:47304400-47310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
31	chr21:47305000-47306400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:47305000-47307400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr21:47305000-47310000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr21:47305000-47310000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:47305000-47310200	Enhancers	Fetal Thymus	thymus
36	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:47305400-47306600	Weak transcription	Brain Anterior Caudate	brain
38	chr21:47305400-47306800	Enhancers	GM12878-XiMat	blood
39	chr21:47305400-47307200	Enhancers	Spleen	Spleen
40	chr21:47305400-47307600	Enhancers	Primary B cells from peripheral blood	blood
41	chr21:47305400-47307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:47305600-47306400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr21:47305600-47306600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr21:47305600-47307600	Enhancers	Brain Angular Gyrus	brain
45	chr21:47305600-47307600	Enhancers	Dnd41	blood
46	chr21:47305600-47308000	Enhancers	Thymus	Thymus
47	chr21:47305800-47306200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr21:47305800-47307000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47305800-47307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:47305800-47307600	Enhancers	Brain Cingulate Gyrus	brain

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