Variant report

Variant	nsv946397
Chromosome Location	chr1:153105217-153113166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153104005..153106814-chr1:153109667..153111966,2	MCF-7	breast:
2	chr1:153104005..153106814-chr1:153109667..153111966,2	MCF-7	breast:
3	chr1:152974698..152976690-chr1:153106639..153108366,2	K562	blood:
4	chr1:153107195..153108706-chr1:153149900..153151455,2	K562	blood:

Variant related genes	Relation type
ENSG00000163209	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115153834	chr1:153105224-153105225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114080465	chr1:153105241-153105242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576340979	chr1:153105281-153105282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77193224	chr1:153105283-153105284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565223018	chr1:153105297-153105298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527581282	chr1:153105311-153105312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7534523	chr1:153105340-153105341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561123470	chr1:153105362-153105363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529769114	chr1:153105363-153105364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557349416	chr1:153105373-153105374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565574057	chr1:153105379-153105380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113439129	chr1:153105384-153105385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569558324	chr1:153105406-153105407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199674364	chr1:153105408-153105409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141884253	chr1:153105409-153105410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551749701	chr1:153105414-153105415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571636524	chr1:153105469-153105470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534206272	chr1:153105485-153105486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553959879	chr1:153105502-153105503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574147531	chr1:153105520-153105521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536352988	chr1:153105536-153105537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556580795	chr1:153105586-153105587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150625391	chr1:153105597-153105598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545466256	chr1:153105598-153105599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565260515	chr1:153105629-153105630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572406802	chr1:153105661-153105662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12029300	chr1:153105663-153105664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139690454	chr1:153105701-153105702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539862692	chr1:153105708-153105709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529855618	chr1:153105756-153105757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549698474	chr1:153105815-153105816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1604264	chr1:153105819-153105820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532052753	chr1:153105823-153105824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs485374	chr1:153105865-153105866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs75305201	chr1:153105877-153105878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565301086	chr1:153105890-153105891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527999750	chr1:153105918-153105919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548021407	chr1:153105930-153105931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567774185	chr1:153105937-153105938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78234301	chr1:153105938-153105939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75712235	chr1:153105939-153105940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556477939	chr1:153105943-153105944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540371004	chr1:153105981-153105982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149761570	chr1:153106090-153106091	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186184352	chr1:153106109-153106110	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79401041	chr1:153106117-153106118	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373227198	chr1:153106160-153106161	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572446005	chr1:153106176-153106177	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556535711	chr1:153106190-153106191	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553058090	chr1:153106208-153106209	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153100400-153107000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:153102600-153107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:153103000-153106800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:153103000-153107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:153103400-153105800	Weak transcription	Ovary	ovary
6	chr1:153104800-153105400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:153104800-153105600	Weak transcription	Pancreas	Pancrea
8	chr1:153104800-153106000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153104800-153107000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:153104800-153108200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:153105400-153105600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:153105600-153107200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:153105800-153106000	Enhancers	Ovary	ovary
14	chr1:153106000-153107000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:153106200-153106400	Enhancers	Esophagus	oesophagus
16	chr1:153106200-153106800	Enhancers	Gastric	stomach
17	chr1:153106800-153107000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:153107000-153108600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:153107000-153109200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:153107000-153118800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:153107000-153122400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:153107200-153109000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:153107800-153108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:153107800-153108600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:153107800-153109000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:153108200-153108400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:153112800-153113200	Enhancers	Gastric	stomach
28	chr1:153112800-153113200	Enhancers	Ovary	ovary
29	chr1:153112800-153114000	Enhancers	Pancreas	Pancrea

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