Variant report

Variant	nsv825409
Chromosome Location	chr1:172678904-172679749
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	chr1:172676899..172680386-chr1:172681123..172684059,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549030738	chr1:172678904-172678905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568586939	chr1:172678909-172678910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535634411	chr1:172678927-172678928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573704205	chr1:172678931-172678932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557270897	chr1:172678964-172678965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188090871	chr1:172679029-172679030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536303583	chr1:172679072-172679073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74887801	chr1:172679103-172679104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10912280	chr1:172679129-172679130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs112274428	chr1:172679141-172679142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191455559	chr1:172679170-172679171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183970178	chr1:172679187-172679188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56670379	chr1:172679244-172679245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116193407	chr1:172679293-172679294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190559955	chr1:172679314-172679315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182267798	chr1:172679316-172679317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114856603	chr1:172679396-172679397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375775719	chr1:172679439-172679440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575573745	chr1:172679459-172679460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145558023	chr1:172679508-172679509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536078834	chr1:172679577-172679578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567460489	chr1:172679579-172679580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148858290	chr1:172679586-172679587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186839319	chr1:172679614-172679615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369778068	chr1:172679633-172679634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10912292	chr1:172679704-172679705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs190080557	chr1:172679723-172679724	Weak transcription Enhancers	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
Cancer	21183584	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	21080181	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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172669400-172679000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:172673400-172679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:172674000-172681000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:172674400-172683000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:172674400-172683000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:172674600-172682800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:172675200-172679000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:172676200-172679000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:172677000-172679000	Enhancers	Fetal Thymus	thymus
10	chr1:172678000-172679000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:172678200-172683000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:172678400-172679400	Enhancers	Dnd41	blood
13	chr1:172678400-172685800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:172679000-172685400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:172679000-172685400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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