Variant report

Variant	esv3505573
Chromosome Location	chr7:25339081-25342246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25331750..25334223-chr7:25338530..25341196,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372686667	chr7:25339114-25339115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561864492	chr7:25339120-25339121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562697560	chr7:25339147-25339148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186093068	chr7:25339180-25339181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370523836	chr7:25339215-25339216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531316496	chr7:25339244-25339245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189185982	chr7:25339274-25339275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376933875	chr7:25339282-25339283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181055271	chr7:25339290-25339291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527578362	chr7:25339292-25339293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547063594	chr7:25339294-25339295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67112407	chr7:25339328-25339329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185892666	chr7:25339372-25339373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116846057	chr7:25339450-25339451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569825336	chr7:25339476-25339477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149636031	chr7:25339497-25339498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551787857	chr7:25339523-25339524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543902713	chr7:25339545-25339546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558254404	chr7:25339546-25339547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191540310	chr7:25339638-25339639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540654298	chr7:25339639-25339640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371008713	chr7:25339683-25339684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375560771	chr7:25339696-25339697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553869183	chr7:25339700-25339701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574320848	chr7:25339710-25339711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144254636	chr7:25339721-25339722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562760283	chr7:25339846-25339847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368436058	chr7:25339864-25339865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531764389	chr7:25339971-25339972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545177394	chr7:25339998-25339999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569318817	chr7:25340043-25340044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138788102	chr7:25340124-25340125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6461857	chr7:25340125-25340126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182857581	chr7:25340173-25340174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74550224	chr7:25340194-25340195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567105758	chr7:25340225-25340226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186163610	chr7:25340228-25340229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190484216	chr7:25340229-25340230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183391254	chr7:25340237-25340238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35638300	chr7:25340293-25340294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142051656	chr7:25340295-25340296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11976528	chr7:25340315-25340316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11983264	chr7:25340318-25340319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368117894	chr7:25340327-25340328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534030150	chr7:25340330-25340331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554147873	chr7:25340358-25340359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35560648	chr7:25340365-25340366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188086850	chr7:25340369-25340370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542938129	chr7:25340404-25340405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534503131	chr7:25340411-25340412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Prostate cancer	16573809	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
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25336800-25342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:25336800-25342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:25336800-25342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:25336800-25342600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:25337000-25342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:25337400-25342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:25338400-25339600	Enhancers	Fetal Brain Male	brain
8	chr7:25339000-25339400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:25339200-25342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:25339400-25342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:25339600-25355000	Weak transcription	Fetal Brain Male	brain
12	chr7:25341400-25341600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:25341600-25342600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:25342200-25343600	Enhancers	Lung	lung

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