Variant report

Variant	nsv967815
Chromosome Location	chr4:175115146-175118379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175117906..175119445-chr4:175125544..175128189,2	K562	blood:
2	chr4:175111550..175113462-chr4:175116075..175118150,2	K562	blood:
3	chr4:175110555..175112491-chr4:175112693..175115212,2	K562	blood:
4	chr4:175117275..175119406-chr4:175125544..175127671,2	K562	blood:
5	chr4:175118204..175119939-chr4:175205237..175207442,2	K562	blood:

Variant related genes	Relation type
ENSG00000164117	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371619038	chr4:175115152-175115153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576631211	chr4:175115245-175115246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562020114	chr4:175115249-175115250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1467005	chr4:175115254-175115255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542634076	chr4:175115255-175115256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555807477	chr4:175115279-175115280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371265831	chr4:175115301-175115302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575755389	chr4:175115312-175115313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376524110	chr4:175115341-175115342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184474947	chr4:175115388-175115389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75807491	chr4:175115487-175115488	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368619038	chr4:175115508-175115509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561266077	chr4:175115509-175115510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529258840	chr4:175115510-175115511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549412361	chr4:175115536-175115537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188875823	chr4:175115546-175115547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541428513	chr4:175115561-175115562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1467006	chr4:175115579-175115580	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74742147	chr4:175115710-175115711	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181505461	chr4:175115711-175115712	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143048982	chr4:175115714-175115715	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532403483	chr4:175115729-175115730	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534450419	chr4:175115744-175115745	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554157990	chr4:175115748-175115749	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554146862	chr4:175115771-175115772	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150681923	chr4:175115786-175115787	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186464987	chr4:175115790-175115791	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191292366	chr4:175115835-175115836	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138944134	chr4:175115850-175115851	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75077725	chr4:175115880-175115881	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367978229	chr4:175115913-175115914	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560785392	chr4:175115951-175115952	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572127956	chr4:175115975-175115976	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116441804	chr4:175115978-175115979	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115904287	chr4:175115986-175115987	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531393280	chr4:175116035-175116036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180897038	chr4:175116043-175116044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542994595	chr4:175116076-175116077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562878041	chr4:175116226-175116227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185127485	chr4:175116242-175116243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551901036	chr4:175116268-175116269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113797806	chr4:175116341-175116342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571740039	chr4:175116370-175116371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527865319	chr4:175116397-175116398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191227560	chr4:175116420-175116421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559091384	chr4:175116452-175116453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12650554	chr4:175116456-175116457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568056841	chr4:175116467-175116468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556480827	chr4:175116468-175116469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569309753	chr4:175116534-175116535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Schizophrenia	18511947	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175110800-175119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:175114000-175115400	Enhancers	K562	blood
3	chr4:175114400-175115400	Enhancers	Fetal Intestine Large	intestine
4	chr4:175115200-175115600	Enhancers	Stomach Smooth Muscle	stomach
5	chr4:175115400-175116000	Flanking Active TSS	K562	blood
6	chr4:175115600-175116000	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:175116000-175116200	Enhancers	K562	blood
8	chr4:175116000-175119000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:175116200-175117400	Weak transcription	K562	blood
10	chr4:175117400-175119800	Enhancers	K562	blood
11	chr4:175117600-175120000	Enhancers	Fetal Lung	lung
12	chr4:175118000-175118400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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