Variant report

Variant	esv2761327
Chromosome Location	chr7:53126773-53156399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:53154314..53155979-chr7:53166345..53169184,2	MCF-7	breast:
2	chr1:108671845..108673381-chr7:53151723..53153225,2	MCF-7	breast:
3	chr7:53155919..53158080-chr7:53165573..53167776,2	MCF-7	breast:

Extended variants
information (count: 499 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146237401	chr7:53127221-53127222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139341949	chr7:53127222-53127223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144131797	chr7:53127251-53127252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538695254	chr7:53127299-53127300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370633992	chr7:53127318-53127319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558906739	chr7:53127363-53127364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6973127	chr7:53127371-53127372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191482446	chr7:53127373-53127374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540949173	chr7:53127390-53127391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373788858	chr7:53127398-53127399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534901673	chr7:53127407-53127408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554819168	chr7:53127412-53127413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184861115	chr7:53127437-53127438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557456181	chr7:53127458-53127459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73698776	chr7:53127459-53127460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557134686	chr7:53127497-53127498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377367242	chr7:53127498-53127499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189742985	chr7:53127501-53127502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11973389	chr7:53127508-53127509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs193077569	chr7:53127510-53127511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185279309	chr7:53127513-53127514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73698777	chr7:53127531-53127532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561147277	chr7:53127536-53127537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530189005	chr7:53127541-53127542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549951787	chr7:53127552-53127553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1174864	chr7:53127559-53127560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
27	rs532614952	chr7:53127561-53127562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552322398	chr7:53127583-53127584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28716931	chr7:53127591-53127592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376068789	chr7:53127592-53127593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11981098	chr7:53127689-53127690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568353943	chr7:53127706-53127707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189351154	chr7:53127720-53127721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541300768	chr7:53127731-53127732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181964345	chr7:53127793-53127794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574829647	chr7:53127811-53127812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372819584	chr7:53127821-53127822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77940931	chr7:53127898-53127899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199878641	chr7:53127913-53127914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372391456	chr7:53127974-53127975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572753928	chr7:53127987-53127988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185155499	chr7:53128022-53128023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143807782	chr7:53128024-53128025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374694114	chr7:53128026-53128027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10225207	chr7:53128069-53128070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574786978	chr7:53128077-53128078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543635971	chr7:53128108-53128109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73698778	chr7:53128159-53128160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532514363	chr7:53128167-53128168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552610940	chr7:53128169-53128170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53127200-53127400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53127200-53127600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:53127600-53129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:53129400-53131000	Enhancers	Brain Hippocampus Middle	brain
5	chr7:53130000-53130600	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:53130400-53131200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:53138400-53139800	Enhancers	HUVEC	blood vessel
8	chr7:53138600-53139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:53138600-53143800	Weak transcription	Aorta	Aorta
10	chr7:53143800-53144200	ZNF genes & repeats	Aorta	Aorta
11	chr7:53146600-53147000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:53146800-53147000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:53154800-53155400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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