Variant report

Variant	nsv519423
Chromosome Location	chr1:166276000-166297851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166293763..166295773-chr1:166296290..166297814,2	K562	blood:
2	chr1:166269277..166271949-chr1:166276213..166278747,2	K562	blood:
3	chr1:166293763..166295773-chr1:166296290..166297814,2	K562	blood:
4	chr1:166270512..166273222-chr1:166273794..166276205,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7547418	chr1:166276000-166276001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139345077	chr1:166276126-166276127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372647719	chr1:166276141-166276142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558978275	chr1:166276165-166276166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569352388	chr1:166276286-166276287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143356025	chr1:166276371-166276372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576552593	chr1:166276383-166276384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542075304	chr1:166276406-166276407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191128726	chr1:166276416-166276417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80177698	chr1:166276430-166276431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150906985	chr1:166276439-166276440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547808525	chr1:166276637-166276638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564513806	chr1:166276650-166276651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576249102	chr1:166276660-166276661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533180985	chr1:166276865-166276866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550001171	chr1:166276928-166276929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569872080	chr1:166276982-166276983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575624335	chr1:166277009-166277010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565338274	chr1:166277026-166277027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77189477	chr1:166277062-166277063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565413563	chr1:166277087-166277088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534455247	chr1:166277090-166277091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557443313	chr1:166277110-166277111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577173350	chr1:166277111-166277112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569339950	chr1:166277140-166277141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182348456	chr1:166277188-166277189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76473880	chr1:166277191-166277192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139227898	chr1:166277197-166277198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113614900	chr1:166277222-166277223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149568227	chr1:166277242-166277243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562315060	chr1:166277264-166277265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376941177	chr1:166277280-166277281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144268570	chr1:166277372-166277373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140095627	chr1:166277396-166277397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189082292	chr1:166277448-166277449	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74917979	chr1:166277494-166277495	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563579997	chr1:166277503-166277504	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368062520	chr1:166277508-166277509	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529199288	chr1:166277509-166277510	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192485481	chr1:166277513-166277514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184704900	chr1:166277515-166277516	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12741117	chr1:166277537-166277538	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187442754	chr1:166277539-166277540	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551035456	chr1:166277666-166277667	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571271788	chr1:166277677-166277678	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537035293	chr1:166277688-166277689	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191888753	chr1:166277715-166277716	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184946745	chr1:166277742-166277743	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143353184	chr1:166277743-166277744	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556104239	chr1:166277772-166277773	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166270200-166277200	Weak transcription	Psoas Muscle	Psoas
2	chr1:166272800-166276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:166272800-166276400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:166272800-166276600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:166273600-166276400	Weak transcription	Fetal Heart	heart
6	chr1:166274400-166277600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:166275400-166277400	Weak transcription	Left Ventricle	heart
8	chr1:166275400-166277400	Weak transcription	Right Atrium	heart
9	chr1:166276200-166276800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:166276400-166277200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:166276400-166278600	Enhancers	Fetal Heart	heart
12	chr1:166276600-166277200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:166277000-166277800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:166277200-166277600	Enhancers	Psoas Muscle	Psoas
15	chr1:166277400-166277800	Active TSS	Right Atrium	heart
16	chr1:166277400-166278200	Active TSS	Left Ventricle	heart
17	chr1:166289600-166290400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:166289800-166290800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:166290000-166290400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:166290000-166290400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:166290200-166290600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:166291800-166292400	Enhancers	GM12878-XiMat	blood
23	chr1:166297200-166297400	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links