Variant report

Variant	esv3384586
Chromosome Location	chr7:13276927-13281825
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	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190761010	chr7:13276930-13276931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536141694	chr7:13276933-13276934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556126622	chr7:13276950-13276951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111523105	chr7:13276955-13276956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549649507	chr7:13276995-13276996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572651126	chr7:13277012-13277013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534924914	chr7:13277013-13277014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183160505	chr7:13277051-13277052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34257511	chr7:13277062-13277063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577658828	chr7:13277081-13277082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187485091	chr7:13277083-13277084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562927209	chr7:13277092-13277093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376031760	chr7:13277093-13277094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573327822	chr7:13277095-13277096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542483881	chr7:13277097-13277098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559236936	chr7:13277145-13277146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528231170	chr7:13277190-13277191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551290072	chr7:13277192-13277193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565133940	chr7:13277241-13277242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74450712	chr7:13277268-13277269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192055408	chr7:13277278-13277279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370384122	chr7:13277301-13277302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535874022	chr7:13277328-13277329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78052704	chr7:13277329-13277330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532064501	chr7:13277396-13277397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139323531	chr7:13277412-13277413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535176051	chr7:13277413-13277414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558056856	chr7:13277414-13277415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578148454	chr7:13277423-13277424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534956756	chr7:13277484-13277485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183449145	chr7:13277489-13277490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551763788	chr7:13277576-13277577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78693087	chr7:13277602-13277603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573265771	chr7:13277642-13277643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542224021	chr7:13277701-13277702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373697613	chr7:13277760-13277761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60072364	chr7:13277767-13277768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543815021	chr7:13277824-13277825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368352083	chr7:13277826-13277827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573051290	chr7:13277831-13277832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545328280	chr7:13277842-13277843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564916686	chr7:13277854-13277855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530762914	chr7:13277860-13277861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562431432	chr7:13277877-13277878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187786379	chr7:13277942-13277943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7780526	chr7:13277948-13277949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs549404272	chr7:13277963-13277964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144135065	chr7:13277983-13277984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548341160	chr7:13277999-13278000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528762018	chr7:13278039-13278040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:13279000-13279800	Enhancers	A549	lung
4	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:13279800-13280200	Enhancers	NH-A	brain
7	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:13279800-13280400	Flanking Active TSS	A549	lung
10	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:13280400-13280600	Enhancers	A549	lung

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