Variant report

Variant	nsv1000855
Chromosome Location	chr4:92583456-92638894
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	chr20:43379044..43379544-chr4:92594658..92595640,2	K562	blood:
2	chr14:89306981..89307680-chr4:92635846..92636574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165533	chromatin interactions

Extended variants
information (count: 502 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181448619	chr4:92583489-92583490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563762989	chr4:92583510-92583511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77467723	chr4:92583513-92583514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577913144	chr4:92583530-92583531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112544226	chr4:92583553-92583554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560222485	chr4:92583560-92583561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529462924	chr4:92583596-92583597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28840497	chr4:92583602-92583603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569401708	chr4:92583622-92583623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186466816	chr4:92583646-92583647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551765461	chr4:92583661-92583662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571653436	chr4:92583673-92583674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534209669	chr4:92583688-92583689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553968635	chr4:92583715-92583716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567785515	chr4:92583729-92583730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190898255	chr4:92583737-92583738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555542388	chr4:92583781-92583782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141251482	chr4:92583804-92583805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562908457	chr4:92583834-92583835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180959367	chr4:92583835-92583836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531731755	chr4:92583836-92583837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76107845	chr4:92583849-92583850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557667559	chr4:92583853-92583854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577195991	chr4:92583883-92583884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200315728	chr4:92583914-92583915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185876039	chr4:92583918-92583919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540270870	chr4:92583924-92583925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149269383	chr4:92583976-92583977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528995241	chr4:92583981-92583982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542824417	chr4:92584029-92584030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563090594	chr4:92584038-92584039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531976770	chr4:92584046-92584047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146193628	chr4:92584097-92584098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191568772	chr4:92584139-92584140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374061125	chr4:92584147-92584148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182966271	chr4:92584168-92584169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547777103	chr4:92584175-92584176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139074755	chr4:92584187-92584188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536776617	chr4:92584211-92584212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145273008	chr4:92584236-92584237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372097748	chr4:92584237-92584238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188837517	chr4:92584239-92584240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190503944	chr4:92584298-92584299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182734727	chr4:92584337-92584338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557628514	chr4:92584338-92584339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577556888	chr4:92584360-92584361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548553013	chr4:92584402-92584403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533515135	chr4:92584409-92584410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568587904	chr4:92584451-92584452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35604869	chr4:92584456-92584457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92579600-92585800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:92582400-92584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:92583400-92584400	Weak transcription	Pancreas	Pancrea
4	chr4:92584400-92585200	ZNF genes & repeats	Pancreas	Pancrea
5	chr4:92584600-92584800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:92584600-92585000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:92591200-92591600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:92601000-92601800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:92601800-92602600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:92601800-92603200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:92602600-92603000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:92602600-92603200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:92614400-92614600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr4:92614600-92615000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:92614600-92615000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:92614600-92617000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:92614800-92615000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:92614800-92615200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:92615000-92617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:92615200-92617600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:92617000-92617200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:92617600-92617800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:92617600-92618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:92622400-92622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:92622600-92622800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:92628800-92629400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:92629000-92629400	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links