Variant report

Variant	nsv967974
Chromosome Location	chr4:173204377-173215109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173199435..173201780-chr4:173201933..173204432,2	MCF-7	breast:
2	chr4:173203590..173205573-chr4:173207385..173209663,2	K562	blood:
3	chr4:173203590..173205573-chr4:173207385..173209663,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183208621	chr4:173208032-173208033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187821362	chr4:173208048-173208049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74676437	chr4:173208066-173208067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192163099	chr4:173208100-173208101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576247900	chr4:173208144-173208145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59043119	chr4:173208183-173208184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9312523	chr4:173208191-173208192	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs13118987	chr4:173208200-173208201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550986918	chr4:173208221-173208222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533035336	chr4:173208222-173208223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539879640	chr4:173208233-173208234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373317218	chr4:173208272-173208273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577648368	chr4:173208333-173208334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560071663	chr4:173208371-173208372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184500144	chr4:173208400-173208401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10213580	chr4:173208420-173208421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189366391	chr4:173208451-173208452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533176734	chr4:173208494-173208495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370721752	chr4:173208502-173208503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569131475	chr4:173208505-173208506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531538104	chr4:173208534-173208535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551599650	chr4:173208586-173208587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373719741	chr4:173208606-173208607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2134661	chr4:173208655-173208656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74368329	chr4:173208675-173208676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576436242	chr4:173208704-173208705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566867675	chr4:173208740-173208741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17222718	chr4:173208793-173208794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35600645	chr4:173208800-173208801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561887437	chr4:173208802-173208803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373697719	chr4:173208841-173208842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567675612	chr4:173208892-173208893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192574486	chr4:173208906-173208907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556440090	chr4:173208996-173208997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367568585	chr4:173208997-173208998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549878187	chr4:173210840-173210841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563399992	chr4:173210910-173210911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536093246	chr4:173210921-173210922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532373236	chr4:173211016-173211017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116435107	chr4:173211041-173211042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566404054	chr4:173211042-173211043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528765794	chr4:173211149-173211150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548793443	chr4:173211162-173211163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568695202	chr4:173211272-173211273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185849095	chr4:173211275-173211276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369459696	chr4:173211341-173211342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57313950	chr4:173211345-173211346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556306138	chr4:173211347-173211348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148626589	chr4:173211441-173211442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372637556	chr4:173211447-173211448	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ovarian clear cell carcinoma	21343371	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173208000-173209000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:173210800-173211600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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