Variant report

Variant	nsv159827
Chromosome Location	chr1:172808445-172809768
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	chr1:172809608..172812514-chr1:172814768..172817076,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184351080	chr1:172808497-172808498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550539848	chr1:172808513-172808514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571859475	chr1:172808570-172808571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189103854	chr1:172808602-172808603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181877374	chr1:172808656-172808657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56758569	chr1:172808780-172808781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6695422	chr1:172808808-172808809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139450814	chr1:172808821-172808822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77976189	chr1:172808825-172808826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146000531	chr1:172808826-172808827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6662018	chr1:172808851-172808852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139901548	chr1:172808857-172808858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558828610	chr1:172808884-172808885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576956504	chr1:172808943-172808944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540850510	chr1:172808956-172808957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149404403	chr1:172808957-172808958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113869741	chr1:172808963-172808964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558989989	chr1:172808982-172808983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111932176	chr1:172808989-172808990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200169304	chr1:172808999-172809000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75719119	chr1:172809002-172809003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529739298	chr1:172809023-172809024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562398751	chr1:172809045-172809046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575953928	chr1:172809054-172809055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186530658	chr1:172809059-172809060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541392098	chr1:172809078-172809079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149699073	chr1:172809082-172809083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530568980	chr1:172809089-172809090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550456611	chr1:172809097-172809098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191295754	chr1:172809125-172809126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180738233	chr1:172809180-172809181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73043855	chr1:172809272-172809273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185165545	chr1:172809288-172809289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554914077	chr1:172809289-172809290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190713460	chr1:172809319-172809320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576320265	chr1:172809342-172809343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117721674	chr1:172809345-172809346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374481542	chr1:172809363-172809364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367565983	chr1:172809378-172809379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558402533	chr1:172809387-172809388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116759915	chr1:172809411-172809412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148425870	chr1:172809489-172809490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559260693	chr1:172809493-172809494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574620608	chr1:172809584-172809585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183279116	chr1:172809598-172809599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142532325	chr1:172809615-172809616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75416973	chr1:172809633-172809634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564246743	chr1:172809653-172809654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552221661	chr1:172809654-172809655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532710991	chr1:172809694-172809695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172796000-172813800	Weak transcription	Small Intestine	intestine
2	chr1:172806600-172808800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:172806800-172809400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:172807000-172808800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:172808200-172808600	Enhancers	NHEK	skin
6	chr1:172808200-172808800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:172808200-172808800	Enhancers	HMEC	breast
8	chr1:172808200-172813600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:172808200-172813800	Weak transcription	Primary T cells from cord blood	blood
10	chr1:172808200-172813800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:172808200-172814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:172808400-172809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:172808400-172813600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:172808400-172813600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:172808400-172813800	Weak transcription	Dnd41	blood
16	chr1:172808800-172810000	Weak transcription	HMEC	breast
17	chr1:172808800-172813600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:172808800-172813600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:172808800-172813800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:172808800-172814400	Weak transcription	HSMMtube	muscle
21	chr1:172809400-172809600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:172809600-172813600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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