Variant report

Variant	esv3368633
Chromosome Location	chr1:150752678-150755926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:150754593-150754972	K562	blood:	n/a	n/a
2	PAX5	chr1:150753464-150753644	GM12878	blood:	n/a	n/a
3	PAX5	chr1:150753444-150753640	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:150755281-150755324	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:150755258-150755275	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150753935..150755523-chr1:150760046..150761556,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETDB1-7	chr1:150752748-150753120	NONHSAT006327

Variant related genes	Relation type
ENSG00000236713	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587722064	chr1:150752687-150752688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587626022	chr1:150752750-150752751	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs61817603	chr1:150752788-150752789	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs376665496	chr1:150752807-150752808	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs61817604	chr1:150752814-150752815	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs587653656	chr1:150752860-150752861	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs15085	chr1:150752931-150752932	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs80248966	chr1:150752968-150752969	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112670510	chr1:150752982-150752983	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs587745700	chr1:150753062-150753063	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs587641920	chr1:150753109-150753110	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs202181983	chr1:150753265-150753266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369842401	chr1:150753267-150753268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143352084	chr1:150753303-150753304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376172983	chr1:150753344-150753345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6676814	chr1:150753351-150753352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587688183	chr1:150753361-150753362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587763088	chr1:150753383-150753384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587650435	chr1:150753398-150753399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587701752	chr1:150753405-150753406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61817605	chr1:150753476-150753477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12404949	chr1:150753487-150753488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs369617019	chr1:150753497-150753498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373216609	chr1:150753509-150753510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587716399	chr1:150753551-150753552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34002273	chr1:150753595-150753596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs587665581	chr1:150753605-150753606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587706443	chr1:150753686-150753687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587605695	chr1:150753757-150753758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201734118	chr1:150753758-150753759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35250403	chr1:150753781-150753782	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs376288118	chr1:150753899-150753900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184359544	chr1:150753910-150753911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61817607	chr1:150753920-150753921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61817608	chr1:150753946-150753947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371026223	chr1:150753950-150753951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61817609	chr1:150753966-150753967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61817610	chr1:150753981-150753982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61817631	chr1:150753986-150753987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186801796	chr1:150753990-150753991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587668105	chr1:150754017-150754018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201063551	chr1:150754030-150754031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587768407	chr1:150754110-150754111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374626744	chr1:150754136-150754137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587643774	chr1:150754146-150754147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587696722	chr1:150754218-150754219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587754276	chr1:150754263-150754264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587652029	chr1:150754275-150754276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377273164	chr1:150754280-150754281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587683390	chr1:150754342-150754343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	21611746	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
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150737200-150761800	Weak transcription	Spleen	Spleen
2	chr1:150744600-150768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:150746800-150753400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:150750600-150753400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:150750600-150767600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:150751200-150752800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:150752800-150753200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:150752800-150753600	Weak transcription	Colonic Mucosa	Colon
9	chr1:150753200-150753400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:150753400-150755200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:150753400-150755200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:150754800-150759400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150755000-150755600	Enhancers	Ovary	ovary
14	chr1:150755000-150755600	Enhancers	K562	blood
15	chr1:150755200-150755600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:150755200-150755600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:150755400-150755600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:150755400-150756200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:150755600-150756200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:150755600-150756400	Weak transcription	Ovary	ovary
21	chr1:150755600-150757000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:150755600-150758000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:150755600-150760000	Weak transcription	K562	blood

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