Variant report

Variant	esv3425906
Chromosome Location	chr7:152582669-152584667
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	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3B-4	chr7:152584608-152584832	NONHSAT124285
2	lnc-ACTR3B-4	chr7:152583184-152583297	NONHSAT124285

Extended variants
information (count: 97 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6977071	chr7:152582675-152582676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577231517	chr7:152582715-152582716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377013300	chr7:152582746-152582747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6977246	chr7:152582756-152582757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs386719589	chr7:152582803-152582804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6977266	chr7:152582805-152582806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546995188	chr7:152582810-152582811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373546539	chr7:152582828-152582829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542488993	chr7:152582846-152582847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561225226	chr7:152582857-152582858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190490708	chr7:152582919-152582920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6977433	chr7:152582920-152582921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559817190	chr7:152582923-152582924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532572504	chr7:152582928-152582929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55658987	chr7:152582952-152582953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11766128	chr7:152582987-152582988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575162008	chr7:152583034-152583035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369088205	chr7:152583074-152583075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56729346	chr7:152583092-152583093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75966798	chr7:152583187-152583188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs180932847	chr7:152583203-152583204	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs542589812	chr7:152583249-152583250	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111876460	chr7:152583274-152583275	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373837988	chr7:152583331-152583332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570879981	chr7:152583343-152583344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148143603	chr7:152583349-152583350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61106470	chr7:152583381-152583382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558054925	chr7:152583401-152583402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6943985	chr7:152583411-152583412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58542133	chr7:152583445-152583446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569214345	chr7:152583449-152583450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113015175	chr7:152583464-152583465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557840107	chr7:152583486-152583487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59879517	chr7:152583494-152583495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55917043	chr7:152583495-152583496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56275367	chr7:152583501-152583502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540511931	chr7:152583523-152583524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146556504	chr7:152583564-152583565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554420654	chr7:152583583-152583584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200242079	chr7:152583584-152583585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71537376	chr7:152583610-152583611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111434990	chr7:152583626-152583627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2311365	chr7:152583627-152583628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139189703	chr7:152583659-152583660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375536945	chr7:152583675-152583676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561730652	chr7:152583679-152583680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183732818	chr7:152583680-152583681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142988611	chr7:152583719-152583720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60140954	chr7:152583744-152583745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532535262	chr7:152583772-152583773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152567200-152584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:152578000-152591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:152581800-152588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:152581800-152590000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:152583400-152591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:152584200-152585200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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