Variant report

Variant	esv2519094
Chromosome Location	chr7:149376647-149377953
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	chr7:149377419..149380079-chr7:149485808..149488196,2	K562	blood:
2	chr7:149375198..149378106-chr7:149380615..149382864,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542287796	chr7:149376659-149376660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117610580	chr7:149376684-149376685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149992343	chr7:149376712-149376713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541608326	chr7:149376741-149376742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112490952	chr7:149376744-149376745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534416434	chr7:149376802-149376803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530388060	chr7:149376806-149376807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184180489	chr7:149376827-149376828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543799846	chr7:149376838-149376839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563294319	chr7:149376861-149376862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76745364	chr7:149376874-149376875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75816891	chr7:149376959-149376960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546627081	chr7:149377071-149377072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145194086	chr7:149377150-149377151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147619417	chr7:149377166-149377167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571119135	chr7:149377178-149377179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370427331	chr7:149377198-149377199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551705034	chr7:149377201-149377202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537348989	chr7:149377230-149377231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550629045	chr7:149377265-149377266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568069107	chr7:149377278-149377279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187514163	chr7:149377329-149377330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555818143	chr7:149377335-149377336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113222648	chr7:149377377-149377378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535393400	chr7:149377379-149377380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1439099	chr7:149377447-149377448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578237305	chr7:149377492-149377493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1439098	chr7:149377511-149377512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563862976	chr7:149377537-149377538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs36017480	chr7:149377550-149377551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35952857	chr7:149377552-149377553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142243754	chr7:149377561-149377562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182394774	chr7:149377588-149377589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558928203	chr7:149377600-149377601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528134865	chr7:149377613-149377614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551102696	chr7:149377708-149377709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12533987	chr7:149377768-149377769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530652055	chr7:149377803-149377804	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73475633	chr7:149377821-149377822	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144659596	chr7:149377822-149377823	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113779838	chr7:149377859-149377860	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80010238	chr7:149377879-149377880	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12537211	chr7:149377882-149377883	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191877798	chr7:149377906-149377907	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371803404	chr7:149377921-149377922	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368779379	chr7:149377922-149377923	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146111033	chr7:149377927-149377928	ZNF genes & repeats Enhancers 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
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149374000-149387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:149376800-149378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:149376800-149378200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:149376800-149378400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:149377000-149378200	Enhancers	Osteobl	bone
6	chr7:149377800-149378800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:149377800-149379600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:149377800-149379800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:149377800-149380600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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