Variant report

Variant	esv3453083
Chromosome Location	chr1:153213928-153219526
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	chr1:153211248..153213332-chr1:153213671..153216662,2	MCF-7	breast:
2	chr1:153213411..153215461-chr1:153315506..153317506,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LOR-4	chr1:153216878-153217186	NONHSAT006512

Extended variants
information (count: 269 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199497947	chr1:153214096-153214097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141603397	chr1:153214097-153214098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369921354	chr1:153214100-153214101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57168087	chr1:153214101-153214102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12737159	chr1:153214102-153214103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12737160	chr1:153214104-153214105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200321054	chr1:153214118-153214119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555325552	chr1:153214158-153214159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575476694	chr1:153214164-153214165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551927821	chr1:153214171-153214172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559597423	chr1:153214189-153214190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12136892	chr1:153214192-153214193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11205243	chr1:153214300-153214301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540379848	chr1:153214326-153214327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370567771	chr1:153214339-153214340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12126039	chr1:153214352-153214353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112256003	chr1:153214357-153214358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542675606	chr1:153214393-153214394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562527113	chr1:153214396-153214397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533030239	chr1:153214447-153214448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183057740	chr1:153214448-153214449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551266313	chr1:153214509-153214510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7523592	chr1:153214524-153214525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs533395342	chr1:153214547-153214548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534745195	chr1:153214605-153214606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548746064	chr1:153214606-153214607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374727964	chr1:153214617-153214618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375705297	chr1:153214655-153214656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75941161	chr1:153214659-153214660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77775233	chr1:153214660-153214661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75054267	chr1:153214661-153214662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11205244	chr1:153214725-153214726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529324108	chr1:153214739-153214740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76567897	chr1:153214807-153214808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569247433	chr1:153214820-153214821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187793727	chr1:153214832-153214833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146962655	chr1:153214843-153214844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571444281	chr1:153214848-153214849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534016260	chr1:153214854-153214855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7523883	chr1:153214867-153214868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs573853646	chr1:153214875-153214876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12137890	chr1:153214901-153214902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555945697	chr1:153214933-153214934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575992517	chr1:153214941-153214942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137991335	chr1:153214974-153214975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558578504	chr1:153214984-153214985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12126968	chr1:153215014-153215015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs11205245	chr1:153215024-153215025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530785940	chr1:153215063-153215064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540452566	chr1:153215107-153215108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153205200-153215600	Weak transcription	Spleen	Spleen
2	chr1:153210200-153215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:153211400-153221200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:153214400-153217800	Weak transcription	Right Atrium	heart
5	chr1:153215000-153217800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:153215600-153215800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:153215600-153215800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:153215600-153215800	Flanking Active TSS	Esophagus	oesophagus
9	chr1:153215600-153215800	Enhancers	Spleen	Spleen
10	chr1:153215800-153216000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:153215800-153216800	Weak transcription	Esophagus	oesophagus
12	chr1:153216000-153217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:153216800-153217200	Enhancers	Esophagus	oesophagus
14	chr1:153217000-153217600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:153217600-153222200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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