Variant report

Variant	nsv968039
Chromosome Location	chr4:173753530-173772714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
2	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
3	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
4	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
5	chr4:173750700..173753059-chr4:173755917..173757526,2	K562	blood:

Extended variants
information (count: 675 )
Associated
traits (count: 71 )

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	rs536509198	chr4:173753541-173753542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6846176	chr4:173753552-173753553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184522300	chr4:173753711-173753712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576921207	chr4:173753720-173753721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10033472	chr4:173753757-173753758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565953587	chr4:173753767-173753768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144783840	chr4:173753810-173753811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546878731	chr4:173753845-173753846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540772437	chr4:173753888-173753889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562503118	chr4:173753899-173753900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188997671	chr4:173753915-173753916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111826906	chr4:173753951-173753952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576044587	chr4:173753971-173753972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530249243	chr4:173753975-173753976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543682873	chr4:173754006-173754007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74537070	chr4:173754015-173754016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544468163	chr4:173754022-173754023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532355578	chr4:173754048-173754049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552579923	chr4:173754089-173754090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141868572	chr4:173754095-173754096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548628525	chr4:173754098-173754099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73871873	chr4:173754173-173754174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548402652	chr4:173754232-173754233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55925077	chr4:173754247-173754248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9997117	chr4:173754277-173754278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536472208	chr4:173754284-173754285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376369207	chr4:173754296-173754297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80190079	chr4:173754331-173754332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75313289	chr4:173754355-173754356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146283511	chr4:173754361-173754362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570006859	chr4:173754374-173754375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73000131	chr4:173754375-173754376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571570686	chr4:173754420-173754421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36020321	chr4:173754444-173754445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397807802	chr4:173754446-173754447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148711873	chr4:173754458-173754459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141441196	chr4:173754461-173754462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541090496	chr4:173754539-173754540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554392080	chr4:173754554-173754555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574672427	chr4:173754584-173754585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116574903	chr4:173754593-173754594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563628484	chr4:173754594-173754595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532710527	chr4:173754629-173754630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546181140	chr4:173754630-173754631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180831376	chr4:173754700-173754701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560390677	chr4:173754745-173754746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79485291	chr4:173754822-173754823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548633805	chr4:173754897-173754898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532202739	chr4:173754910-173754911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184851749	chr4:173754925-173754926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173747600-173765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:173750400-173755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:173755400-173755800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:173755800-173759200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:173756000-173756400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:173759200-173759400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:173759200-173759400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:173759200-173759600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:173759400-173760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:173759400-173762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:173759400-173762400	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:173759400-173764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:173759600-173759800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:173759600-173759800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:173760200-173762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:173760600-173760800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:173760800-173761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:173761400-173761800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:173761400-173762000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:173761400-173762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:173762000-173762200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:173762200-173771800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:173763000-173764000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:173763400-173763800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:173763600-173764600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:173763600-173765000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:173763800-173764000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:173763800-173764800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:173764000-173764200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:173764000-173764400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:173764000-173764800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:173764000-173764800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:173764200-173764400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:173764400-173764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:173764600-173764800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:173764800-173765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:173764800-173766200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:173764800-173766600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:173765000-173765600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:173765600-173765800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:173765800-173766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:173765800-173766000	Enhancers	Fetal Brain Female	brain
43	chr4:173765800-173766800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:173766400-173767400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:173767400-173771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:173769000-173770200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:173769000-173771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:173769800-173770200	Enhancers	NHDF-Ad	bronchial
49	chr4:173770200-173771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:173770200-173771800	Weak transcription	NHDF-Ad	bronchial

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