Variant report

Variant	esv1815242
Chromosome Location	chr7:13591076-13633151
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	chr7:13593591..13595646-chr7:13599156..13601092,2	K562	blood:
2	chr7:13593591..13595646-chr7:13599156..13601092,2	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566970104	chr7:13591094-13591095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1880632	chr7:13591095-13591096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563314879	chr7:13591109-13591110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs36100395	chr7:13591117-13591118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573664362	chr7:13591159-13591160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542585327	chr7:13591168-13591169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184342682	chr7:13591172-13591173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528283018	chr7:13591187-13591188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1880631	chr7:13591197-13591198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564928820	chr7:13591235-13591236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117471795	chr7:13591244-13591245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549845562	chr7:13591289-13591290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569740422	chr7:13591322-13591323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535428352	chr7:13591357-13591358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552879166	chr7:13591369-13591370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569492056	chr7:13591395-13591396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190751359	chr7:13591424-13591425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566324411	chr7:13591450-13591451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534910727	chr7:13591468-13591469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115055806	chr7:13591525-13591526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113624818	chr7:13591549-13591550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13237232	chr7:13591602-13591603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141215256	chr7:13591621-13591622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202087916	chr7:13591633-13591634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557071305	chr7:13591638-13591639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573703126	chr7:13591652-13591653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2204478	chr7:13591674-13591675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552994844	chr7:13591689-13591690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573137857	chr7:13591724-13591725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544964791	chr7:13591733-13591734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35005297	chr7:13591749-13591750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564771947	chr7:13591761-13591762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17280283	chr7:13591767-13591768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552587062	chr7:13591768-13591769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543529529	chr7:13591777-13591778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377181858	chr7:13591783-13591784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566110636	chr7:13591794-13591795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563406007	chr7:13591804-13591805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10499429	chr7:13591814-13591815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142579178	chr7:13591910-13591911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181881276	chr7:13591947-13591948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373049198	chr7:13591976-13591977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186324013	chr7:13591981-13591982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551772934	chr7:13591999-13592000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571897896	chr7:13592000-13592001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569323702	chr7:13595608-13595609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564740260	chr7:13595611-13595612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115703416	chr7:13595645-13595646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112636420	chr7:13595663-13595664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369808982	chr7:13595678-13595679	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13590600-13591400	Enhancers	Psoas Muscle	Psoas
2	chr7:13590800-13591600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13590800-13592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:13591000-13591800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:13591000-13592000	Enhancers	HSMMtube	muscle
6	chr7:13591200-13591800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:13591200-13592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:13595600-13596000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:13595600-13596000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:13599600-13600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:13617200-13618000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:13617200-13619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:13617200-13619000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:13617200-13619200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:13617200-13619800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:13617400-13619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:13617600-13619200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:13618400-13619000	Enhancers	H9 Cell Line	embryonic stem cell

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