Variant report

Variant	nsv822828
Chromosome Location	chr4:171947856-171949040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190137318	chr4:171947877-171947878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530892068	chr4:171947883-171947884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551015340	chr4:171947929-171947930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570887383	chr4:171947942-171947943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533252343	chr4:171947964-171947965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528301134	chr4:171948021-171948022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2877579	chr4:171948042-171948043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533539326	chr4:171948044-171948045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566949331	chr4:171948051-171948052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35179546	chr4:171948059-171948060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148183862	chr4:171948077-171948078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141586183	chr4:171948105-171948106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536623952	chr4:171948165-171948166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185830200	chr4:171948282-171948283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576809493	chr4:171948322-171948323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75922469	chr4:171948370-171948371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376934789	chr4:171948371-171948372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553034717	chr4:171948447-171948448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77372679	chr4:171948497-171948498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567178742	chr4:171948534-171948535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542060626	chr4:171948558-171948559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189756007	chr4:171948577-171948578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182757579	chr4:171948597-171948598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536240876	chr4:171948647-171948648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371405892	chr4:171948649-171948650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564465240	chr4:171948651-171948652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75431533	chr4:171948715-171948716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528608529	chr4:171948772-171948773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189017439	chr4:171948797-171948798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193104075	chr4:171948799-171948800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183467531	chr4:171948810-171948811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369949358	chr4:171948855-171948856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187444660	chr4:171948865-171948866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35634213	chr4:171948866-171948867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538136085	chr4:171948914-171948915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551701998	chr4:171948935-171948936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545220114	chr4:171948964-171948965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
primary effusion lymphomas	17116491	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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171944600-171949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:171945200-171948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:171945400-171948200	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:171946200-171949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:171946400-171949200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:171946400-171950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:171946400-171954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:171947200-171949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:171947400-171949200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:171947400-171949600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:171947400-171949600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:171948000-171949400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:171949000-171949800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:171949000-171949800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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