Variant report

Variant	esv2589325
Chromosome Location	chr7:7541483-7543037
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	chr7:7530006..7532448-chr7:7539748..7541894,2	MCF-7	breast:
2	chr1:234735823..234738754-chr7:7542030..7544124,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543521793	chr7:7541511-7541512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146686557	chr7:7541526-7541527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141357451	chr7:7541530-7541531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563985286	chr7:7541531-7541532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533433676	chr7:7541532-7541533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143756192	chr7:7541541-7541542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543252994	chr7:7541572-7541573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561528888	chr7:7541578-7541579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6463697	chr7:7541582-7541583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191365276	chr7:7541585-7541586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560548683	chr7:7541597-7541598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527643837	chr7:7541626-7541627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367928863	chr7:7541632-7541633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552640499	chr7:7541670-7541671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571002036	chr7:7541671-7541672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183667399	chr7:7541673-7541674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550434309	chr7:7541682-7541683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367745377	chr7:7541683-7541684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568650457	chr7:7541712-7541713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111233915	chr7:7541714-7541715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149006969	chr7:7541715-7541716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572018101	chr7:7541718-7541719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188374478	chr7:7541727-7541728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557328200	chr7:7541767-7541768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143679592	chr7:7541792-7541793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543091250	chr7:7541810-7541811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561567353	chr7:7541822-7541823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181106335	chr7:7541869-7541870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541326585	chr7:7541878-7541879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559335868	chr7:7541883-7541884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533250035	chr7:7541946-7541947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116131966	chr7:7541967-7541968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564461226	chr7:7541993-7541994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142466226	chr7:7542007-7542008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79485551	chr7:7542047-7542048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568687414	chr7:7542049-7542050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6463698	chr7:7542137-7542138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79372270	chr7:7542159-7542160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186389550	chr7:7542181-7542182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540110430	chr7:7542201-7542202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74815754	chr7:7542204-7542205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76347026	chr7:7542214-7542215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536763650	chr7:7542218-7542219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555002469	chr7:7542226-7542227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190214199	chr7:7542237-7542238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568502799	chr7:7542245-7542246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7810134	chr7:7542265-7542266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553120576	chr7:7542287-7542288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181917088	chr7:7542308-7542309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577896911	chr7:7542321-7542322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528000-7545600	Weak transcription	Placenta	Placenta
2	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7529000-7557600	Weak transcription	Pancreas	Pancrea
4	chr7:7533800-7544600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:7537200-7541800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:7538800-7544200	Weak transcription	Brain Germinal Matrix	brain
7	chr7:7539800-7544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:7541000-7543000	Enhancers	NHDF-Ad	bronchial
9	chr7:7541600-7542000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:7541600-7542000	Enhancers	Fetal Intestine Large	intestine
11	chr7:7541800-7545400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:7542000-7542200	Enhancers	Fetal Intestine Small	intestine
13	chr7:7542000-7544200	Weak transcription	Fetal Intestine Large	intestine
14	chr7:7542000-7552200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:7542200-7544600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:7543000-7544200	Weak transcription	NHDF-Ad	bronchial

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