Variant report

Variant	nsv548098
Chromosome Location	chr1:166595209-166623180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:166598318..166601316-chr1:166603442..166605798,2	K562	blood:
2	chr1:166598376..166600400-chr1:166600678..166602405,2	K562	blood:
3	chr1:166606674..166608700-chr1:166627422..166629735,2	MCF-7	breast:
4	chr1:166598376..166600400-chr1:166600678..166602405,2	K562	blood:
5	chr1:166599816..166602307-chr1:166602461..166604942,2	K562	blood:
6	chr1:166589682..166592157-chr1:166593940..166597259,3	K562	blood:
7	chr1:166592488..166594055-chr1:166594735..166596268,2	K562	blood:
8	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:
9	chr1:166599816..166602307-chr1:166602461..166604942,2	K562	blood:
10	chr1:166598318..166601316-chr1:166603442..166605798,2	K562	blood:
11	chr1:166598296..166600144-chr1:166632730..166634319,2	K562	blood:
12	chr1:166563481..166565697-chr1:166594929..166597318,2	K562	blood:

No data

Extended variants
information (count: 355 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs714339	chr1:166595209-166595210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377392285	chr1:166595223-166595224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185972934	chr1:166595229-166595230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567070309	chr1:166595258-166595259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201133303	chr1:166595261-166595262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148940791	chr1:166595301-166595302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527740138	chr1:166595302-166595303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147033049	chr1:166595356-166595357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78493202	chr1:166595358-166595359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138422037	chr1:166595470-166595471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547508852	chr1:166595487-166595488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12132853	chr1:166595565-166595566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192017174	chr1:166595579-166595580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562243844	chr1:166595588-166595589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183968744	chr1:166595637-166595638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143899948	chr1:166595653-166595654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534132869	chr1:166595655-166595656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145988498	chr1:166595666-166595667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148236612	chr1:166595676-166595677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188563555	chr1:166595689-166595690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1631056	chr1:166595692-166595693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs570246891	chr1:166595703-166595704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565820589	chr1:166595708-166595709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536184502	chr1:166595747-166595748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141354804	chr1:166595803-166595804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535645862	chr1:166595807-166595808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192049335	chr1:166595829-166595830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577379947	chr1:166595840-166595841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543121861	chr1:166595864-166595865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555020500	chr1:166595883-166595884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150810629	chr1:166595893-166595894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542251472	chr1:166595908-166595909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139194711	chr1:166595943-166595944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527971100	chr1:166596042-166596043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541719094	chr1:166596074-166596075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10918539	chr1:166596081-166596082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565376	chr1:166596083-166596084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182736186	chr1:166596119-166596120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140739623	chr1:166596126-166596127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374151332	chr1:166596127-166596128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201685068	chr1:166596143-166596144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199632361	chr1:166596144-166596145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200511434	chr1:166596145-166596146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201300665	chr1:166596146-166596147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550252457	chr1:166596149-166596150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199803863	chr1:166596152-166596153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200609943	chr1:166596153-166596154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201686325	chr1:166596154-166596155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199898957	chr1:166596155-166596156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201260702	chr1:166596156-166596157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166595000-166596000	Enhancers	K562	blood
2	chr1:166595200-166596000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:166596000-166601600	Weak transcription	K562	blood
4	chr1:166601600-166602600	Enhancers	K562	blood
5	chr1:166607200-166607800	Enhancers	Esophagus	oesophagus
6	chr1:166607800-166608000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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