Variant report

Variant	esv3401360
Chromosome Location	chr7:7506877-7511675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368853024	chr7:7507331-7507332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372256826	chr7:7507540-7507541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202012899	chr7:7507622-7507623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201536761	chr7:7507753-7507754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191282611	chr7:7508061-7508062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541838633	chr7:7508105-7508106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200177155	chr7:7508260-7508261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199695615	chr7:7509091-7509092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201125817	chr7:7509277-7509278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201795342	chr7:7509322-7509323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200038072	chr7:7509345-7509346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112366193	chr7:7509432-7509433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200981916	chr7:7509618-7509619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539225431	chr7:7510436-7510437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12114002	chr7:7510487-7510488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201003011	chr7:7510551-7510552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113354102	chr7:7510621-7510622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148546889	chr7:7510648-7510649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541047378	chr7:7510690-7510691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187163888	chr7:7510702-7510703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567344226	chr7:7510723-7510724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533053298	chr7:7510772-7510773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143783694	chr7:7510776-7510777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57457067	chr7:7510777-7510778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534455598	chr7:7510827-7510828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546290058	chr7:7510832-7510833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571065869	chr7:7510841-7510842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192895764	chr7:7510846-7510847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557192703	chr7:7510877-7510878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185393144	chr7:7510898-7510899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564748793	chr7:7510920-7510921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141886365	chr7:7510937-7510938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555519503	chr7:7510953-7510954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574178649	chr7:7510968-7510969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150570875	chr7:7510976-7510977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553514012	chr7:7510987-7510988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190055313	chr7:7511014-7511015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77095219	chr7:7511074-7511075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55798422	chr7:7511134-7511135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531145157	chr7:7511161-7511162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542603264	chr7:7511174-7511175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144378183	chr7:7511175-7511176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182278659	chr7:7511180-7511181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147854217	chr7:7511201-7511202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571031277	chr7:7511224-7511225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111473959	chr7:7511247-7511248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139722013	chr7:7511255-7511256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529517589	chr7:7511317-7511318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200316301	chr7:7511318-7511319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532154162	chr7:7511320-7511321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7490400-7513800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7501200-7518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:7501400-7511600	Weak transcription	Pancreas	Pancrea
4	chr7:7503000-7512000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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