Variant report

Variant	nsv967816
Chromosome Location	chr4:175604173-175605254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175601769..175605702-chr4:175608830..175610744,3	K562	blood:
2	chr4:175602454..175607122-chr4:175607186..175610908,5	K562	blood:
3	chr4:175597348..175599819-chr4:175602946..175605141,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 71 )

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	rs564026900	chr4:175604184-175604185	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532569743	chr4:175604226-175604227	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552287829	chr4:175604241-175604242	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35659583	chr4:175604256-175604257	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548572918	chr4:175604259-175604260	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528534044	chr4:175604281-175604282	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116025906	chr4:175604287-175604288	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150086482	chr4:175604295-175604296	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532655462	chr4:175604297-175604298	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182062808	chr4:175604301-175604302	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559673974	chr4:175604332-175604333	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551330455	chr4:175604372-175604373	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571136190	chr4:175604378-175604379	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35817385	chr4:175604473-175604474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199710009	chr4:175604519-175604520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77015195	chr4:175604520-175604521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113301086	chr4:175604524-175604525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370853748	chr4:175604583-175604584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546819667	chr4:175604626-175604627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566566086	chr4:175604637-175604638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535173521	chr4:175604691-175604692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555242696	chr4:175604700-175604701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555159396	chr4:175604751-175604752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187229552	chr4:175604767-175604768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192107093	chr4:175604789-175604790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566656191	chr4:175604791-175604792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181813560	chr4:175604792-175604793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561802569	chr4:175604857-175604858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538396588	chr4:175604862-175604863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186831416	chr4:175604898-175604899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149266085	chr4:175604921-175604922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190231291	chr4:175605014-175605015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559439581	chr4:175605021-175605022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528605828	chr4:175605030-175605031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367910240	chr4:175605113-175605114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72706160	chr4:175605175-175605176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371718676	chr4:175605229-175605230	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
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
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175603600-175604400	Genic enhancers	K562	blood
2	chr4:175604400-175605800	Weak transcription	K562	blood

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