Variant report

Variant	esv3328353
Chromosome Location	chr7:117157516-117159714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375979848	chr7:117157540-117157541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35197837	chr7:117157553-117157554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548219030	chr7:117157665-117157666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10225787	chr7:117157759-117157760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34735848	chr7:117157760-117157761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533323915	chr7:117157772-117157773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559033626	chr7:117157798-117157799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191460194	chr7:117157807-117157808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112791390	chr7:117157828-117157829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556078483	chr7:117157853-117157854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139397530	chr7:117157874-117157875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60923902	chr7:117157880-117157881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375819132	chr7:117157881-117157882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397959023	chr7:117157882-117157883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542154555	chr7:117157897-117157898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560441751	chr7:117157915-117157916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572092386	chr7:117157918-117157919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545447289	chr7:117158059-117158060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564242541	chr7:117158075-117158076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141100589	chr7:117158096-117158097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149670707	chr7:117158109-117158110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370584450	chr7:117158114-117158115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551202904	chr7:117158116-117158117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562931892	chr7:117158202-117158203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34035263	chr7:117158215-117158216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548478412	chr7:117158228-117158229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566797183	chr7:117158306-117158307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183278609	chr7:117158311-117158312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562191230	chr7:117158386-117158387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187809840	chr7:117158406-117158407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552265100	chr7:117158438-117158439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192814431	chr7:117158446-117158447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71567344	chr7:117158599-117158600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72291298	chr7:117158624-117158625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576373589	chr7:117158640-117158641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13438309	chr7:117158642-117158643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200630283	chr7:117158722-117158723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568263762	chr7:117158745-117158746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541869471	chr7:117158807-117158808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561751389	chr7:117158832-117158833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527938750	chr7:117158867-117158868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535616765	chr7:117158968-117158969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35490261	chr7:117159157-117159158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183713022	chr7:117159201-117159202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188038048	chr7:117159215-117159216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192573268	chr7:117159263-117159264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576127589	chr7:117159314-117159315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184802828	chr7:117159341-117159342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561402337	chr7:117159400-117159401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547700111	chr7:117159446-117159447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117151800-117172600	Weak transcription	Pancreas	Pancrea
2	chr7:117154400-117169600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:117154400-117170800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:117154400-117174400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:117154600-117164200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:117155400-117163400	Weak transcription	Fetal Intestine Small	intestine

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