Variant report

Variant	esv2476785
Chromosome Location	chr7:18249559-18251019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:18240899..18244580-chr7:18250175..18254118,3	K562	blood:
2	chr7:18216226..18218726-chr7:18250746..18252267,2	K562	blood:
3	chr7:18240899..18246753-chr7:18248807..18254845,6	K562	blood:
4	chr7:18217240..18219162-chr7:18248697..18251214,2	MCF-7	breast:
5	chr7:18250651..18253317-chr7:18302876..18305651,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562685647	chr7:18249559-18249560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190342101	chr7:18249565-18249566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576410640	chr7:18249580-18249581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542297474	chr7:18249603-18249604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559048079	chr7:18249616-18249617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1178385	chr7:18249619-18249620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371923009	chr7:18249632-18249633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34805942	chr7:18249635-18249636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546977562	chr7:18249683-18249684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370914099	chr7:18249693-18249694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141720779	chr7:18249750-18249751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183265270	chr7:18249777-18249778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569087830	chr7:18249792-18249793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150566468	chr7:18249800-18249801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551779110	chr7:18249812-18249813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139587350	chr7:18249835-18249836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533507311	chr7:18249853-18249854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187644010	chr7:18249916-18249917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544643444	chr7:18249941-18249942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375807046	chr7:18249963-18249964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571689629	chr7:18249998-18249999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149792286	chr7:18249999-18250000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531110317	chr7:18250022-18250023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368512963	chr7:18250023-18250024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551300964	chr7:18250025-18250026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147495966	chr7:18250083-18250084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567847520	chr7:18250087-18250088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79171964	chr7:18250161-18250162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577906843	chr7:18250226-18250227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545227555	chr7:18250232-18250233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139863041	chr7:18250251-18250252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560142987	chr7:18250315-18250316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559016524	chr7:18250327-18250328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192751028	chr7:18250336-18250337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540233185	chr7:18250344-18250345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561733257	chr7:18250407-18250408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529277954	chr7:18250444-18250445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76530260	chr7:18250472-18250473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550657348	chr7:18250473-18250474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7779744	chr7:18250482-18250483	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184218690	chr7:18250544-18250545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551952988	chr7:18250567-18250568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567025039	chr7:18250571-18250572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147733280	chr7:18250605-18250606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188445593	chr7:18250618-18250619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567245457	chr7:18250624-18250625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192668227	chr7:18250641-18250642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556281901	chr7:18250645-18250646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577818659	chr7:18250784-18250785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538429717	chr7:18250796-18250797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18241400-18251200	Weak transcription	Left Ventricle	heart
2	chr7:18242200-18250000	Weak transcription	Fetal Heart	heart
3	chr7:18250000-18252000	Enhancers	Fetal Heart	heart
4	chr7:18250200-18252400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:18250400-18252400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:18250600-18251000	Enhancers	Adipose Nuclei	Adipose
7	chr7:18250800-18251200	Enhancers	Fetal Lung	lung
8	chr7:18251000-18251800	Enhancers	Psoas Muscle	Psoas
9	chr7:18251000-18252400	Weak transcription	Adipose Nuclei	Adipose
10	chr7:18251000-18253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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