Variant report

Variant	esv13083
Chromosome Location	chr7:13866579-13871138
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	chr7:13859282..13862271-chr7:13864269..13866964,2	K562	blood:
2	chr7:13869026..13872125-chr7:13876719..13879737,3	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527466482	chr7:13866614-13866615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190604460	chr7:13866661-13866662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141948850	chr7:13866716-13866717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539076867	chr7:13866724-13866725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530419374	chr7:13866729-13866730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150099578	chr7:13866759-13866760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370933039	chr7:13866773-13866774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145487959	chr7:13866789-13866790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75508916	chr7:13866799-13866800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148852832	chr7:13866831-13866832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10265181	chr7:13866844-13866845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182888825	chr7:13866900-13866901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576538724	chr7:13866901-13866902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551473052	chr7:13866946-13866947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187186328	chr7:13867002-13867003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571276646	chr7:13867004-13867005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191681952	chr7:13867020-13867021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9886277	chr7:13867053-13867054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138047822	chr7:13867077-13867078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375354323	chr7:13867080-13867081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561995378	chr7:13867217-13867218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527540415	chr7:13867269-13867270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142593175	chr7:13867307-13867308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570622103	chr7:13867308-13867309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375199357	chr7:13867389-13867390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184536355	chr7:13867409-13867410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111728409	chr7:13867410-13867411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71538856	chr7:13867422-13867423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538214750	chr7:13867433-13867434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555008262	chr7:13867438-13867439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568724530	chr7:13867457-13867458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567494033	chr7:13867465-13867466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536509880	chr7:13867470-13867471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367684951	chr7:13867497-13867498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187544802	chr7:13867498-13867499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554346195	chr7:13867501-13867502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576994821	chr7:13867507-13867508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111821522	chr7:13867511-13867512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577555701	chr7:13867544-13867545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545508640	chr7:13867570-13867571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73271526	chr7:13867597-13867598	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185536408	chr7:13867640-13867641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371815933	chr7:13867644-13867645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541806861	chr7:13867648-13867649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189087562	chr7:13867664-13867665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181570234	chr7:13867688-13867689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572675180	chr7:13867717-13867718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184168773	chr7:13867719-13867720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367740364	chr7:13867732-13867733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540923760	chr7:13867758-13867759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13862000-13866600	Weak transcription	Osteobl	bone
2	chr7:13862000-13868800	Weak transcription	NHDF-Ad	bronchial
3	chr7:13862400-13868600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:13862600-13871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:13863000-13869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:13866600-13867000	Enhancers	Osteobl	bone
7	chr7:13867000-13869200	Weak transcription	Osteobl	bone
8	chr7:13867400-13867800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:13867400-13867800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:13867800-13870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:13868000-13868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:13868000-13870200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:13868400-13868800	Enhancers	Fetal Stomach	stomach
14	chr7:13868600-13871000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:13868800-13869200	Weak transcription	Fetal Stomach	stomach
16	chr7:13868800-13871000	Enhancers	NHDF-Ad	bronchial
17	chr7:13868800-13871400	Enhancers	Fetal Heart	heart
18	chr7:13868800-13873200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:13869000-13870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:13869000-13870600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:13869200-13870600	Enhancers	Fetal Stomach	stomach
22	chr7:13869200-13870800	Enhancers	Osteobl	bone
23	chr7:13869400-13870200	Enhancers	HSMM	muscle
24	chr7:13869400-13870600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:13869400-13870600	Enhancers	HSMMtube	muscle
26	chr7:13869600-13870400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:13869600-13870400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:13869600-13870600	Enhancers	Left Ventricle	heart
29	chr7:13869600-13871000	Enhancers	Fetal Lung	lung
30	chr7:13869800-13870400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:13869800-13870600	Enhancers	NHLF	lung
32	chr7:13869800-13871000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:13870000-13870400	Enhancers	Right Ventricle	heart
34	chr7:13870000-13870800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:13870200-13870400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:13870200-13870400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:13870200-13871000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:13870200-13871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:13870200-13873800	Weak transcription	HSMM	muscle
40	chr7:13870400-13871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:13870400-13873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:13870400-13873800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:13870400-13874000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:13870600-13873600	Weak transcription	HSMMtube	muscle
45	chr7:13870800-13873400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:13870800-13873800	Weak transcription	Osteobl	bone
47	chr7:13871000-13871400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:13871000-13871800	Weak transcription	NHDF-Ad	bronchial
49	chr7:13871000-13873400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:13871000-13873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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