Variant report

Variant	nsv528885
Chromosome Location	chr1:168820748-168826032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168819023..168820599-chr1:168824082..168826869,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17102	chr1:168820748-168820749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375740840	chr1:168820768-168820769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529765279	chr1:168820778-168820779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200558	chr1:168820779-168820780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9919250	chr1:168820795-168820796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186718252	chr1:168820849-168820850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574928446	chr1:168820853-168820854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76480608	chr1:168820887-168820888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200559	chr1:168820889-168820890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536705967	chr1:168820936-168820937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191569990	chr1:168820938-168820939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150955153	chr1:168820950-168820951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564892187	chr1:168820960-168820961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74123009	chr1:168820962-168820963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144407102	chr1:168821030-168821031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561072194	chr1:168821111-168821112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184544060	chr1:168821122-168821123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540291856	chr1:168821141-168821142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559209988	chr1:168821204-168821205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146595321	chr1:168821224-168821225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7556407	chr1:168821254-168821255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563418887	chr1:168821304-168821305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530488268	chr1:168821306-168821307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552745292	chr1:168821380-168821381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571005183	chr1:168821385-168821386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189463298	chr1:168821398-168821399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192921035	chr1:168821402-168821403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532713276	chr1:168821403-168821404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568748240	chr1:168821405-168821406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535876406	chr1:168821406-168821407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73038266	chr1:168821504-168821505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575705079	chr1:168821678-168821679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539503149	chr1:168821679-168821680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185012801	chr1:168821702-168821703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574746011	chr1:168821708-168821709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12735405	chr1:168821797-168821798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77798854	chr1:168821805-168821806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200560	chr1:168821896-168821897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190401596	chr1:168821904-168821905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569519047	chr1:168821911-168821912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531363145	chr1:168822008-168822009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541824884	chr1:168822040-168822041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563096404	chr1:168822063-168822064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530632427	chr1:168822133-168822134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552028159	chr1:168822135-168822136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548205234	chr1:168822136-168822137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181808889	chr1:168822144-168822145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28677136	chr1:168822145-168822146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547187600	chr1:168822166-168822167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533881995	chr1:168822199-168822200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168818800-168830600	Weak transcription	Stomach Mucosa	stomach
2	chr1:168823000-168823400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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