Variant report

Variant	nsv435905
Chromosome Location	chr1:114037702-114046085
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	chr1:114038568..114040595-chr17:56708009..56710342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143772572	chr1:114037723-114037724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148149588	chr1:114037802-114037803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574116535	chr1:114037843-114037844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539832144	chr1:114037854-114037855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565129748	chr1:114037896-114037897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74832827	chr1:114037908-114037909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548115375	chr1:114037980-114037981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11458302	chr1:114037981-114037982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76438673	chr1:114037982-114037983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397779595	chr1:114037994-114037995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79772498	chr1:114037995-114037996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532107151	chr1:114038011-114038012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536632841	chr1:114038012-114038013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370102340	chr1:114038037-114038038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545624409	chr1:114038077-114038078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565491283	chr1:114038114-114038115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77997178	chr1:114038156-114038157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370902332	chr1:114038172-114038173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551320515	chr1:114038212-114038213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373328455	chr1:114038217-114038218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555387520	chr1:114038241-114038242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567928365	chr1:114038277-114038278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193083533	chr1:114038322-114038323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376169051	chr1:114038350-114038351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530333726	chr1:114038359-114038360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573608427	chr1:114038439-114038440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541137262	chr1:114038465-114038466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546654762	chr1:114038553-114038554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71948888	chr1:114038554-114038555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566999069	chr1:114038609-114038610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538746442	chr1:114038621-114038622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558584495	chr1:114038658-114038659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570143327	chr1:114038738-114038739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577935252	chr1:114038754-114038755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568714746	chr1:114038762-114038763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377370862	chr1:114038835-114038836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537621488	chr1:114038930-114038931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554478335	chr1:114038945-114038946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539172301	chr1:114039005-114039006	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540271142	chr1:114039084-114039085	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553480059	chr1:114039088-114039089	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188444473	chr1:114039134-114039135	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545919649	chr1:114039182-114039183	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs80273054	chr1:114039193-114039194	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35511181	chr1:114039314-114039315	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141163477	chr1:114039362-114039363	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191754596	chr1:114039387-114039388	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561593422	chr1:114039443-114039444	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141934620	chr1:114039464-114039465	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150705353	chr1:114039498-114039499	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114031800-114039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:114031800-114039600	Weak transcription	Pancreas	Pancrea
3	chr1:114034200-114053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:114036600-114039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:114037400-114037800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:114037800-114039400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:114039000-114039800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:114039400-114040000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:114039400-114040000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:114039600-114039800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:114039600-114039800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:114039600-114039800	ZNF genes & repeats	Pancreas	Pancrea
13	chr1:114039600-114040000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:114039600-114040000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:114039600-114040000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:114039800-114049400	Weak transcription	Pancreas	Pancrea
17	chr1:114039800-114050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:114045600-114048400	Weak transcription	H9 Cell Line	embryonic stem cell

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