Variant report

Variant	nsv880008
Chromosome Location	chr4:133164679-133212878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 675 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1353840	chr4:133164679-133164680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552269395	chr4:133164739-133164740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138336368	chr4:133164749-133164750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570878249	chr4:133164764-133164765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181136147	chr4:133164790-133164791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533124794	chr4:133164864-133164865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546799337	chr4:133164875-133164876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575865647	chr4:133164883-133164884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186578987	chr4:133164918-133164919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544492453	chr4:133164927-133164928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561178006	chr4:133164943-133164944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530210791	chr4:133164973-133164974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566699450	chr4:133164996-133164997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140437940	chr4:133165005-133165006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548714465	chr4:133165019-133165020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549045608	chr4:133165037-133165038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528083146	chr4:133165048-133165049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12500208	chr4:133165057-133165058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143829402	chr4:133165067-133165068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537386181	chr4:133165078-133165079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7693391	chr4:133165098-133165099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149198589	chr4:133165152-133165153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567517071	chr4:133165157-133165158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553329905	chr4:133165169-133165170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536443715	chr4:133165206-133165207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553515998	chr4:133165226-133165227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573330469	chr4:133165294-133165295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538676928	chr4:133165306-133165307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189024939	chr4:133165333-133165334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571842906	chr4:133165361-133165362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180796436	chr4:133165366-133165367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577305636	chr4:133165369-133165370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533671048	chr4:133165384-133165385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144299992	chr4:133165393-133165394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148739113	chr4:133165479-133165480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142306720	chr4:133165497-133165498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559024438	chr4:133165498-133165499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528155708	chr4:133165596-133165597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551174657	chr4:133165599-133165600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185416255	chr4:133165632-133165633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530422304	chr4:133165659-133165660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550937640	chr4:133165702-133165703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150883077	chr4:133165775-133165776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536455923	chr4:133165793-133165794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546790868	chr4:133165797-133165798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191017070	chr4:133165847-133165848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1499328	chr4:133165898-133165899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549327922	chr4:133166022-133166023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371793436	chr4:133166027-133166028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558758037	chr4:133166029-133166030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133160400-133165600	Weak transcription	Stomach Mucosa	stomach
2	chr4:133160600-133165000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:133161600-133165600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:133165400-133167000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:133165600-133166200	Enhancers	Stomach Mucosa	stomach
6	chr4:133165600-133167000	Enhancers	Fetal Intestine Small	intestine
7	chr4:133165800-133167000	Enhancers	Fetal Lung	lung
8	chr4:133166600-133166800	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:133167000-133169600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:133183000-133184800	Weak transcription	Fetal Thymus	thymus
11	chr4:133184000-133190000	Enhancers	Dnd41	blood
12	chr4:133184800-133185600	Enhancers	Fetal Lung	lung
13	chr4:133184800-133185600	Enhancers	Fetal Thymus	thymus
14	chr4:133185000-133185600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:133185600-133187600	Weak transcription	Fetal Lung	lung
16	chr4:133185600-133187800	Weak transcription	Fetal Thymus	thymus
17	chr4:133187400-133188600	Enhancers	Primary T cells from cord blood	blood
18	chr4:133187600-133188000	Enhancers	Fetal Lung	lung
19	chr4:133187600-133188400	Enhancers	Primary B cells from cord blood	blood
20	chr4:133187800-133188600	Enhancers	Fetal Thymus	thymus
21	chr4:133188200-133188800	Enhancers	Thymus	Thymus
22	chr4:133188600-133190000	Weak transcription	Fetal Thymus	thymus
23	chr4:133190000-133190400	Weak transcription	Dnd41	blood
24	chr4:133190000-133190800	ZNF genes & repeats	Fetal Thymus	thymus
25	chr4:133190400-133191000	ZNF genes & repeats	Dnd41	blood
26	chr4:133190600-133190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:133190600-133191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:133200000-133200400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:133201200-133201600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:133201600-133205600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:133204200-133204600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:133204200-133204600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:133204600-133205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:133205600-133206400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:133205600-133207400	ZNF genes & repeats	Dnd41	blood
36	chr4:133205800-133206000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr4:133205800-133206200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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