Variant report

Variant	nsv946447
Chromosome Location	chr1:173067348-173071343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173055099..173057845-chr1:173067910..173069482,2	MCF-7	breast:
2	chr1:173047508..173049835-chr1:173069750..173072161,2	K562	blood:
3	chr1:173065791..173068355-chr1:173072416..173074777,2	K562	blood:
4	chr1:173065791..173068178-chr1:173072964..173074777,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148873458	chr1:173067358-173067359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189179252	chr1:173067366-173067367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143521284	chr1:173067514-173067515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531371437	chr1:173067524-173067525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557416777	chr1:173067549-173067550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34262741	chr1:173067550-173067551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397949471	chr1:173067559-173067560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201954115	chr1:173067560-173067561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577359757	chr1:173067571-173067572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543244593	chr1:173067619-173067620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558132045	chr1:173067661-173067662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75728701	chr1:173067695-173067696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371934721	chr1:173067778-173067779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545984184	chr1:173067827-173067828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191770140	chr1:173067870-173067871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565395057	chr1:173067957-173067958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386368765	chr1:173067979-173067980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71299437	chr1:173067980-173067981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373515995	chr1:173067983-173067984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79116350	chr1:173067989-173067990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184316909	chr1:173068003-173068004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567899252	chr1:173068075-173068076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115195103	chr1:173068077-173068078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375109273	chr1:173068149-173068150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188115114	chr1:173068198-173068199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576619828	chr1:173068202-173068203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571761499	chr1:173068226-173068227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542525216	chr1:173068263-173068264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141633143	chr1:173068267-173068268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180882559	chr1:173068274-173068275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187256453	chr1:173068295-173068296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561904844	chr1:173068314-173068315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554830496	chr1:173068394-173068395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527664104	chr1:173068406-173068407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76188894	chr1:173068407-173068408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs997331	chr1:173068424-173068425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564776263	chr1:173068430-173068431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532183091	chr1:173068435-173068436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541074163	chr1:173068444-173068445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145730538	chr1:173068499-173068500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190444047	chr1:173068511-173068512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199825689	chr1:173068517-173068518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547906215	chr1:173068529-173068530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567957214	chr1:173068601-173068602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73034151	chr1:173068602-173068603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372942722	chr1:173068613-173068614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550506758	chr1:173068652-173068653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377170683	chr1:173068653-173068654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138562514	chr1:173068665-173068666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144125224	chr1:173068668-173068669	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Parkinson disease	21829596	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173065200-173069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:173066400-173069200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:173066400-173071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173066400-173072400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:173067200-173067400	Enhancers	NHLF	lung
6	chr1:173069200-173069400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:173069400-173070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:173069600-173070200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:173069800-173070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:173070000-173070200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:173070600-173072000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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