Variant report

Variant	nsv527113
Chromosome Location	chr4:151314315-151316434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151314752..151316835-chr4:151320252..151322487,2	K562	blood:
2	chr4:151315444..151317639-chr4:151319800..151322753,2	MCF-7	breast:
3	chr4:151315284..151318816-chr4:151320374..151325337,6	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7676219	chr4:151314315-151314316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544647236	chr4:151314338-151314339	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368018634	chr4:151314354-151314355	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141470294	chr4:151314363-151314364	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113257213	chr4:151314370-151314371	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563411086	chr4:151314380-151314381	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7681051	chr4:151314440-151314441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530631155	chr4:151314489-151314490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573233334	chr4:151314546-151314547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74434615	chr4:151314608-151314609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570507980	chr4:151314624-151314625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145202638	chr4:151314630-151314631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539325219	chr4:151314663-151314664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548867401	chr4:151314683-151314684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191065988	chr4:151314693-151314694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182430958	chr4:151314769-151314770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561080229	chr4:151314782-151314783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186644866	chr4:151314793-151314794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149157295	chr4:151314795-151314796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574584760	chr4:151314908-151314909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369175649	chr4:151314914-151314915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556913194	chr4:151314964-151314965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576859575	chr4:151315053-151315054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529250372	chr4:151315114-151315115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551497280	chr4:151315232-151315233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546216310	chr4:151315246-151315247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545890568	chr4:151315283-151315284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201984952	chr4:151315340-151315341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140124784	chr4:151315341-151315342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538210116	chr4:151315418-151315419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562943702	chr4:151315509-151315510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72955819	chr4:151315644-151315645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75693508	chr4:151315674-151315675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143290900	chr4:151315677-151315678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117025252	chr4:151315724-151315725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117404070	chr4:151315744-151315745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35064635	chr4:151315780-151315781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190009916	chr4:151315794-151315795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112228360	chr4:151315796-151315797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76996216	chr4:151315815-151315816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546282892	chr4:151315823-151315824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77731457	chr4:151315837-151315838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528827122	chr4:151315872-151315873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111698281	chr4:151315877-151315878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75311820	chr4:151315885-151315886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182996954	chr4:151315905-151315906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138922226	chr4:151315933-151315934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373817187	chr4:151315957-151315958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13152380	chr4:151315996-151315997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs570630953	chr4:151315997-151315998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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
Renal cell carcinoma	20952505	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151272000-151371400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:151286600-151355600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:151290200-151367400	Weak transcription	K562	blood
4	chr4:151292400-151361000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151296000-151317200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:151299800-151314600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:151301600-151315600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:151307000-151348800	Weak transcription	Aorta	Aorta
9	chr4:151307200-151315000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:151307200-151323400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:151307200-151324000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:151307200-151324200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:151307200-151332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:151307400-151314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:151309600-151314400	Weak transcription	A549	lung
16	chr4:151309600-151314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:151309600-151332600	Weak transcription	Stomach Mucosa	stomach
18	chr4:151311200-151314600	Strong transcription	Primary T cells from cord blood	blood
19	chr4:151311600-151343800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:151312600-151314600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:151312800-151332400	Weak transcription	Primary B cells from cord blood	blood
22	chr4:151313000-151316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:151313200-151358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:151313600-151358000	Weak transcription	GM12878-XiMat	blood
25	chr4:151314000-151314400	Weak transcription	Fetal Intestine Large	intestine
26	chr4:151314000-151314800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:151314000-151315400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:151314000-151324200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:151314200-151315600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr4:151314200-151324200	Weak transcription	Pancreas	Pancrea
31	chr4:151314400-151315000	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr4:151314600-151315000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr4:151314600-151320600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:151314600-151320800	Weak transcription	Fetal Intestine Small	intestine
35	chr4:151314600-151332600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:151314600-151342800	Weak transcription	Primary T cells from cord blood	blood
37	chr4:151314800-151321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:151315000-151320400	Weak transcription	Fetal Intestine Large	intestine
39	chr4:151315000-151324200	Weak transcription	Lung	lung
40	chr4:151315000-151324200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:151315000-151332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:151315400-151315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:151315600-151316200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:151315600-151344000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:151315800-151324200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:151315800-151325200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:151315800-151359400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr4:151316200-151318400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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