Variant report

Variant	esv3432166
Chromosome Location	chr7:48652660-48655083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1918604	chr7:48652671-48652672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529485893	chr7:48652712-48652713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549148901	chr7:48652721-48652722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568175502	chr7:48652754-48652755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536768464	chr7:48652871-48652872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191056792	chr7:48652877-48652878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1918605	chr7:48652924-48652925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539391494	chr7:48652935-48652936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553348828	chr7:48652943-48652944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566760665	chr7:48653051-48653052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531525486	chr7:48653102-48653103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535678107	chr7:48653110-48653111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113537964	chr7:48653125-48653126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575363158	chr7:48653174-48653175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539475347	chr7:48653257-48653258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10253638	chr7:48653276-48653277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9649742	chr7:48653327-48653328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555155039	chr7:48653467-48653468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563603784	chr7:48653516-48653517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7809663	chr7:48653581-48653582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182884857	chr7:48653615-48653616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529521141	chr7:48653657-48653658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542884637	chr7:48653681-48653682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187476158	chr7:48653691-48653692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73094698	chr7:48653807-48653808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557813282	chr7:48653846-48653847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570521131	chr7:48653900-48653901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73327990	chr7:48653921-48653922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148571745	chr7:48653926-48653927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566448812	chr7:48653983-48653984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142865020	chr7:48654074-48654075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184950898	chr7:48654091-48654092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547915224	chr7:48654119-48654120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568962439	chr7:48654161-48654162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572825213	chr7:48654174-48654175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370211110	chr7:48654211-48654212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538042124	chr7:48654232-48654233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558010473	chr7:48654247-48654248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373391089	chr7:48654322-48654323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10252144	chr7:48654376-48654377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187514126	chr7:48654585-48654586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553771456	chr7:48654615-48654616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573663316	chr7:48654625-48654626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542959426	chr7:48654646-48654647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548266611	chr7:48654674-48654675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563148907	chr7:48654680-48654681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531855386	chr7:48654701-48654702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10255431	chr7:48654746-48654747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564056828	chr7:48654752-48654753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10243913	chr7:48654761-48654762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48635800-48672200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48650200-48672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:48652200-48654800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48654800-48669400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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