Variant report

Variant	esv1845822
Chromosome Location	chr7:3550368-3560266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
2	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
3	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
4	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
5	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
6	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
7	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:

Extended variants
information (count: 531 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4291167	chr7:3550368-3550369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138743704	chr7:3550398-3550399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4496870	chr7:3550414-3550415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537641442	chr7:3550416-3550417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556822768	chr7:3550420-3550421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535936719	chr7:3550426-3550427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539092212	chr7:3550433-3550434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113827454	chr7:3550443-3550444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552946842	chr7:3550512-3550513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572464317	chr7:3550523-3550524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541722130	chr7:3550534-3550535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555237101	chr7:3550554-3550555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559421066	chr7:3550563-3550564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544380277	chr7:3550564-3550565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563658768	chr7:3550598-3550599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117853196	chr7:3550600-3550601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545943746	chr7:3550614-3550615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73035927	chr7:3550641-3550642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528448634	chr7:3550646-3550647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114159993	chr7:3550649-3550650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73293551	chr7:3550676-3550677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531165514	chr7:3550682-3550683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551134465	chr7:3550690-3550691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73035928	chr7:3550701-3550702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539527906	chr7:3550708-3550709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577080419	chr7:3550756-3550757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188390022	chr7:3550757-3550758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537199743	chr7:3550779-3550780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191774329	chr7:3550809-3550810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555276166	chr7:3550812-3550813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544355817	chr7:3550827-3550828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184320141	chr7:3550865-3550866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116461906	chr7:3550897-3550898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117786329	chr7:3550953-3550954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34311891	chr7:3550959-3550960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577724914	chr7:3550977-3550978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375085116	chr7:3550981-3550982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562545574	chr7:3551066-3551067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138319803	chr7:3551089-3551090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529962630	chr7:3551114-3551115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186738959	chr7:3551119-3551120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542231744	chr7:3551178-3551179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562397762	chr7:3551185-3551186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531260475	chr7:3551207-3551208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145885248	chr7:3551211-3551212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191534006	chr7:3551215-3551216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202011717	chr7:3551223-3551224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112442826	chr7:3551226-3551227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564704454	chr7:3551234-3551235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533356300	chr7:3551239-3551240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3548000-3550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3549200-3550800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:3549200-3550800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:3549400-3550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:3549400-3550800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:3549400-3550800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:3549400-3550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:3549400-3550800	Enhancers	Primary B cells from cord blood	blood
9	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:3549600-3550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:3549600-3550400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:3549600-3550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:3549600-3550600	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:3549600-3550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:3549600-3550800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:3549600-3550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:3549800-3550800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:3549800-3550800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:3549800-3550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:3550000-3554400	Weak transcription	Fetal Brain Male	brain
21	chr7:3550200-3552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:3551400-3551600	Enhancers	Pancreas	Pancrea
24	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
25	chr7:3552000-3552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:3554400-3555200	Enhancers	Fetal Brain Male	brain
27	chr7:3554600-3554800	Enhancers	Aorta	Aorta
28	chr7:3554600-3555800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
30	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
35	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
37	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr7:3557000-3557600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:3557200-3557400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr7:3557200-3557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:3557400-3559600	Weak transcription	Primary T cells from cord blood	blood
44	chr7:3557400-3559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:3557400-3560600	Weak transcription	Pancreas	Pancrea
46	chr7:3557600-3559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:3558800-3559000	Enhancers	Colon Smooth Muscle	Colon
49	chr7:3559000-3560000	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:3559600-3560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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