Variant report

Variant	esv3352275
Chromosome Location	chr7:26322477-26325125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26220379..26222750-chr7:26324403..26326556,2	MCF-7	breast:
2	chr7:26130269..26131203-chr7:26324356..26325072,3	K562	blood:
3	chr7:26236386..26241823-chr7:26322979..26327139,7	K562	blood:
4	chr7:26324783..26327312-chr7:26329336..26332307,3	K562	blood:
5	chr7:26237933..26242335-chr7:26322799..26328116,8	MCF-7	breast:
6	chr7:26237304..26242756-chr7:26323009..26328142,11	MCF-7	breast:
7	chr7:26237989..26241529-chr7:26322443..26324819,3	K562	blood:
8	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:
9	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000086300	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369304984	chr7:26322483-26322484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112287727	chr7:26322485-26322486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74743914	chr7:26322486-26322487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542028158	chr7:26322578-26322579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187313018	chr7:26322591-26322592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566379139	chr7:26322607-26322608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575830654	chr7:26322610-26322611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369980044	chr7:26322627-26322628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141188728	chr7:26322630-26322631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147089118	chr7:26322646-26322647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566857154	chr7:26322654-26322655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34092335	chr7:26322658-26322659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533290627	chr7:26322720-26322721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546698827	chr7:26322727-26322728	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561998489	chr7:26322789-26322790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560166328	chr7:26322794-26322795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373918955	chr7:26322852-26322853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541921864	chr7:26322879-26322880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529107872	chr7:26322945-26322946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192901426	chr7:26322948-26322949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185175409	chr7:26322965-26322966	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10236496	chr7:26322973-26322974	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115271963	chr7:26323013-26323014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190071801	chr7:26323047-26323048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533732249	chr7:26323080-26323081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73283329	chr7:26323097-26323098	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573618305	chr7:26323127-26323128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536078567	chr7:26323141-26323142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112619236	chr7:26323152-26323153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149223293	chr7:26323161-26323162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544493737	chr7:26323196-26323197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372062006	chr7:26323214-26323215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557987097	chr7:26323282-26323283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534865120	chr7:26323292-26323293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577617908	chr7:26323316-26323317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28831402	chr7:26323356-26323357	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35796188	chr7:26323363-26323364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529353192	chr7:26323388-26323389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542836444	chr7:26323396-26323397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562539617	chr7:26323420-26323421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2562790	chr7:26323421-26323422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs71521757	chr7:26323431-26323432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35476600	chr7:26323455-26323456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555607961	chr7:26323488-26323489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13235636	chr7:26323510-26323511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111219854	chr7:26323523-26323524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56077087	chr7:26323530-26323531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571522881	chr7:26323532-26323533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55699431	chr7:26323543-26323544	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs28889646	chr7:26323576-26323577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26319400-26324000	Weak transcription	Placenta	Placenta
2	chr7:26319400-26326600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:26320000-26324000	Weak transcription	HepG2	liver
4	chr7:26321000-26324200	Weak transcription	K562	blood
5	chr7:26322200-26322600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:26322400-26326800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:26322600-26326800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:26324000-26324400	Enhancers	Placenta	Placenta
9	chr7:26324000-26326400	Enhancers	HepG2	liver
10	chr7:26324200-26324600	Enhancers	NHEK	skin
11	chr7:26324200-26324800	Enhancers	K562	blood
12	chr7:26324200-26325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:26324400-26330800	Weak transcription	Placenta	Placenta

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