Variant report

Variant	nsv964002
Chromosome Location	chr4:151552346-151559600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151547587..151550181-chr4:151550728..151553369,2	K562	blood:
2	chr4:151549998..151552688-chr4:151555046..151558009,2	K562	blood:
3	chr4:151549998..151552688-chr4:151555046..151558009,2	K562	blood:
4	chr4:151559117..151560696-chr4:151562492..151565114,2	K562	blood:

Extended variants
information (count: 264 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7692615	chr4:151552376-151552377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372861654	chr4:151552401-151552402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544511085	chr4:151552464-151552465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111898246	chr4:151552514-151552515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533153828	chr4:151552597-151552598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77584559	chr4:151552606-151552607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370737881	chr4:151552661-151552662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188740616	chr4:151552695-151552696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149554995	chr4:151552699-151552700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191221704	chr4:151552714-151552715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182591752	chr4:151552808-151552809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537418442	chr4:151552921-151552922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570641633	chr4:151552940-151552941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551262272	chr4:151552961-151552962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571017627	chr4:151552966-151552967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539736680	chr4:151552997-151552998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576579001	chr4:151553069-151553070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186516114	chr4:151553091-151553092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373112541	chr4:151553108-151553109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566700867	chr4:151553110-151553111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543596552	chr4:151553122-151553123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112366541	chr4:151553124-151553125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555541847	chr4:151553152-151553153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377551374	chr4:151553154-151553155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575615953	chr4:151553161-151553162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529362529	chr4:151553172-151553173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544233613	chr4:151553173-151553174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558040931	chr4:151553194-151553195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577899070	chr4:151553274-151553275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6852703	chr4:151553296-151553297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191756298	chr4:151553347-151553348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143682924	chr4:151553354-151553355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113748887	chr4:151553380-151553381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs33955499	chr4:151553387-151553388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555696635	chr4:151553388-151553389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80269793	chr4:151553389-151553390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542765943	chr4:151553528-151553529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562400324	chr4:151553532-151553533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531349003	chr4:151553539-151553540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76602675	chr4:151553596-151553597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559748678	chr4:151553659-151553660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11942733	chr4:151553700-151553701	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs146345678	chr4:151553707-151553708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78417767	chr4:151553716-151553717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566737117	chr4:151553824-151553825	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73861668	chr4:151553858-151553859	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555833593	chr4:151553888-151553889	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183891388	chr4:151553944-151553945	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529562386	chr4:151553964-151553965	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7675820	chr4:151553965-151553966	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151501200-151559800	Weak transcription	Ovary	ovary
3	chr4:151512400-151556000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:151520400-151556200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151520600-151553800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:151531000-151553600	Weak transcription	Primary B cells from cord blood	blood
7	chr4:151533400-151553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:151533400-151596200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:151537600-151559600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:151541600-151557800	Weak transcription	Pancreas	Pancrea
11	chr4:151542000-151554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:151543600-151553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:151543800-151554600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:151553600-151554000	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr4:151553800-151554800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:151553800-151556200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:151554000-151555400	Strong transcription	Primary B cells from cord blood	blood
18	chr4:151554200-151554600	Weak transcription	Aorta	Aorta
19	chr4:151554400-151557000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:151554600-151554800	ZNF genes & repeats	HMEC	breast
21	chr4:151554600-151555000	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr4:151554600-151555200	ZNF genes & repeats	Aorta	Aorta
23	chr4:151554800-151556200	Weak transcription	HMEC	breast
24	chr4:151554800-151585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:151555000-151556000	Weak transcription	Primary T cells from cord blood	blood
26	chr4:151555200-151556000	Weak transcription	Aorta	Aorta
27	chr4:151555400-151555600	Weak transcription	Primary B cells from cord blood	blood
28	chr4:151555600-151555800	Strong transcription	Primary B cells from cord blood	blood
29	chr4:151555800-151585600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:151556000-151556200	Strong transcription	Primary T cells from cord blood	blood
31	chr4:151556000-151556200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr4:151556000-151556200	ZNF genes & repeats	Aorta	Aorta
33	chr4:151556200-151557800	Weak transcription	Aorta	Aorta
34	chr4:151556200-151558400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:151556200-151558600	Weak transcription	Primary T cells from cord blood	blood
36	chr4:151557000-151560200	Weak transcription	Fetal Lung	lung
37	chr4:151557400-151558400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:151557800-151558000	ZNF genes & repeats	Aorta	Aorta
39	chr4:151557800-151558000	Enhancers	Pancreas	Pancrea
40	chr4:151558000-151558800	Weak transcription	Aorta	Aorta
41	chr4:151558200-151569000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:151558400-151559000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr4:151558400-151559200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:151558400-151559400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:151558600-151559200	Strong transcription	Primary T cells from cord blood	blood
46	chr4:151558600-151574200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:151558800-151559000	ZNF genes & repeats	Aorta	Aorta
48	chr4:151558800-151559600	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr4:151559200-151577000	Weak transcription	Primary T cells from cord blood	blood
50	chr4:151559400-151578200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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