Variant report

Variant	nsv587832
Chromosome Location	chr21:46448003-46451705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
2	chr21:46449363..46451001-chr21:46455293..46458206,2	K562	blood:
3	chr21:46450068..46453536-chr21:46454953..46460100,5	MCF-7	breast:
4	chr21:46432319..46434906-chr21:46450919..46453400,2	K562	blood:
5	chr21:46451651..46453473-chr21:46473060..46475568,2	MCF-7	breast:
6	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
7	chr21:46451089..46452987-chr21:46493122..46494689,2	K562	blood:
8	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:
9	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268856	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536783453	chr21:46448005-46448006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11909368	chr21:46448011-46448012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554765572	chr21:46448012-46448013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11909183	chr21:46448016-46448017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542654365	chr21:46448028-46448029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71334045	chr21:46448029-46448030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34766671	chr21:46448033-46448034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11909186	chr21:46448040-46448041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11909464	chr21:46448047-46448048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572942819	chr21:46448051-46448052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374294504	chr21:46448057-46448058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11909190	chr21:46448061-46448062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564757251	chr21:46448069-46448070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs447312	chr21:46448083-46448084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112697968	chr21:46448124-46448125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56027083	chr21:46448142-46448143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543961613	chr21:46448155-46448156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558477141	chr21:46448156-46448157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562165738	chr21:46448164-46448165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562077320	chr21:46448186-46448187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111562052	chr21:46448187-46448188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368755286	chr21:46448190-46448191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113602422	chr21:46448192-46448193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577540164	chr21:46448196-46448197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113384251	chr21:46448223-46448224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113411342	chr21:46448228-46448229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111551877	chr21:46448252-46448253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55814536	chr21:46448253-46448254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529368274	chr21:46448262-46448263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112942168	chr21:46448269-46448270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113170605	chr21:46448331-46448332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs364340	chr21:46448336-46448337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111449077	chr21:46448341-46448342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113795094	chr21:46448360-46448361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113965020	chr21:46448377-46448378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs436682	chr21:46448396-46448397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs364087	chr21:46448403-46448404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111886801	chr21:46448408-46448409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111657822	chr21:46448413-46448414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113383411	chr21:46448432-46448433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113386714	chr21:46448439-46448440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111535671	chr21:46448444-46448445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112107838	chr21:46448475-46448476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111935970	chr21:46448485-46448486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530597574	chr21:46448491-46448492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371412546	chr21:46448508-46448509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11909935	chr21:46448541-46448542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376161859	chr21:46448552-46448553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560854825	chr21:46448593-46448594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12381210	chr21:46448606-46448607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Williams-beuren syndrome	16826523	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46439400-46452200	Weak transcription	Esophagus	oesophagus
3	chr21:46440600-46449200	Weak transcription	Right Atrium	heart
4	chr21:46441600-46449400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:46442200-46450800	Weak transcription	Spleen	Spleen
6	chr21:46446600-46451400	Weak transcription	Ovary	ovary
7	chr21:46446800-46448600	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:46446800-46452400	Weak transcription	Aorta	Aorta
9	chr21:46447400-46449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:46447400-46449200	Weak transcription	Fetal Lung	lung
11	chr21:46447400-46449400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:46447600-46449200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:46447600-46449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46447600-46449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46447600-46449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46447600-46449400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr21:46447600-46449800	Weak transcription	Gastric	stomach
18	chr21:46448600-46451000	Enhancers	Fetal Muscle Leg	muscle
19	chr21:46448800-46449400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:46449000-46449200	Enhancers	Fetal Stomach	stomach
21	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:46449200-46449400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr21:46449200-46449400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr21:46449200-46449400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr21:46449200-46449400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:46449200-46449400	Bivalent Enhancer	Fetal Thymus	thymus
27	chr21:46449200-46449400	Enhancers	Stomach Smooth Muscle	stomach
28	chr21:46449200-46449400	Bivalent Enhancer	K562	blood
29	chr21:46449200-46449600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:46449200-46449600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:46449200-46449600	Enhancers	Colon Smooth Muscle	Colon
32	chr21:46449200-46449600	Enhancers	Rectal Smooth Muscle	rectum
33	chr21:46449200-46449600	Bivalent Enhancer	HepG2	liver
34	chr21:46449200-46449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:46449200-46449800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:46449200-46449800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr21:46449200-46450000	Enhancers	Fetal Intestine Small	intestine
38	chr21:46449200-46450000	Bivalent Enhancer	Placenta	Placenta
39	chr21:46449200-46450200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:46449200-46450200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46449200-46450400	Enhancers	Adipose Nuclei	Adipose
42	chr21:46449200-46450400	Bivalent Enhancer	Brain Hippocampus Middle	brain
43	chr21:46449200-46450400	Bivalent Enhancer	Fetal Brain Female	brain
44	chr21:46449200-46450400	Enhancers	Fetal Lung	lung
45	chr21:46449200-46450800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr21:46449200-46451000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:46449200-46451000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46449200-46451000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr21:46449200-46451000	Bivalent Enhancer	Fetal Brain Male	brain
50	chr21:46449200-46451000	Enhancers	NHLF	lung

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