Variant report

Variant	esv10381
Chromosome Location	chr7:66858458-66859603
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	chr7:66857902..66861234-chr7:66864878..66868630,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572463122	chr7:66858477-66858478	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs115256280	chr7:66858480-66858481	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560999979	chr7:66858493-66858494	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188326969	chr7:66858528-66858529	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542193684	chr7:66858548-66858549	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2110005	chr7:66858570-66858571	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2110006	chr7:66858582-66858583	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs12532409	chr7:66858597-66858598	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181104579	chr7:66858617-66858618	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542984493	chr7:66858636-66858637	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186461099	chr7:66858652-66858653	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550636680	chr7:66858673-66858674	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567441684	chr7:66858693-66858694	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536210301	chr7:66858710-66858711	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12534196	chr7:66858712-66858713	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs58851315	chr7:66858719-66858720	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs118126393	chr7:66858731-66858732	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12532437	chr7:66858745-66858746	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575733475	chr7:66858746-66858747	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79538148	chr7:66858775-66858776	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554680094	chr7:66858808-66858809	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147929055	chr7:66858809-66858810	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540196892	chr7:66858817-66858818	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368693073	chr7:66858829-66858830	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373846819	chr7:66858831-66858832	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76394683	chr7:66858851-66858852	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572024879	chr7:66858854-66858855	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542483840	chr7:66858857-66858858	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112047333	chr7:66858877-66858878	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6969421	chr7:66858881-66858882	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs386714143	chr7:66858941-66858942	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6952460	chr7:66858942-66858943	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547119473	chr7:66858968-66858969	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183373757	chr7:66858969-66858970	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115756130	chr7:66858983-66858984	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139020375	chr7:66859032-66859033	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558965411	chr7:66859040-66859041	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569558095	chr7:66859046-66859047	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12534273	chr7:66859116-66859117	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550012816	chr7:66859135-66859136	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35621161	chr7:66859173-66859174	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555212243	chr7:66859197-66859198	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74942575	chr7:66859218-66859219	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12112523	chr7:66859221-66859222	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374447782	chr7:66859233-66859234	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142862909	chr7:66859266-66859267	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370621953	chr7:66859293-66859294	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576739045	chr7:66859314-66859315	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545802339	chr7:66859325-66859326	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566143807	chr7:66859380-66859381	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66857800-66858600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:66857800-66859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:66858000-66858600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:66858000-66858800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:66858200-66858600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:66858200-66858800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:66858200-66859400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:66858400-66858800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:66858400-66859200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:66858400-66859200	Enhancers	Colon Smooth Muscle	Colon
11	chr7:66858400-66859200	Enhancers	Fetal Stomach	stomach
12	chr7:66858600-66858800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:66858600-66858800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:66858800-66859600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:66858800-66862800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:66859600-66859800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell

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