Variant report

Variant	esv1848278
Chromosome Location	chr7:66482884-66494472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:
2	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:
3	chr7:66460373..66463092-chr7:66483549..66485094,2	K562	blood:

Variant related genes	Relation type
ENSG00000126524	chromatin interactions
ENSG00000198874	chromatin interactions

Extended variants
information (count: 490 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148741933	chr7:66482886-66482887	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145265045	chr7:66482902-66482903	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565894058	chr7:66482909-66482910	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375343767	chr7:66482914-66482915	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200747329	chr7:66482922-66482923	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367995808	chr7:66482929-66482930	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555619697	chr7:66482944-66482945	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367914277	chr7:66482950-66482951	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531919446	chr7:66482951-66482952	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202237438	chr7:66482970-66482971	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372114244	chr7:66482977-66482978	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376332204	chr7:66482988-66482989	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199662837	chr7:66482999-66483000	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147609955	chr7:66483028-66483029	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200451351	chr7:66483048-66483049	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142141313	chr7:66483059-66483060	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578255738	chr7:66483071-66483072	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144533794	chr7:66483084-66483085	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151211596	chr7:66483114-66483115	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372125701	chr7:66483124-66483125	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375377246	chr7:66483137-66483138	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369028621	chr7:66483156-66483157	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556928021	chr7:66483159-66483160	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573597987	chr7:66483168-66483169	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572685364	chr7:66483189-66483190	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117499834	chr7:66483202-66483203	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559213864	chr7:66483210-66483211	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572584754	chr7:66483222-66483223	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544816915	chr7:66483235-66483236	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147603224	chr7:66483311-66483312	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149118437	chr7:66483316-66483317	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550421609	chr7:66483385-66483386	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561227290	chr7:66483388-66483389	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529317432	chr7:66483404-66483405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527959347	chr7:66483418-66483419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549337627	chr7:66483427-66483428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143165387	chr7:66483449-66483450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535092935	chr7:66483528-66483529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552005336	chr7:66483536-66483537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531369682	chr7:66483593-66483594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs571827030	chr7:66483626-66483627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537631072	chr7:66483628-66483629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557413210	chr7:66483648-66483649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376638603	chr7:66483663-66483664	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574251306	chr7:66483669-66483670	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535906101	chr7:66483670-66483671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs552901977	chr7:66483679-66483680	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112239417	chr7:66483758-66483759	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183801440	chr7:66483802-66483803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186934986	chr7:66483804-66483805	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
4	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
5	chr7:66462600-66484600	Weak transcription	HUVEC	blood vessel
6	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
9	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
11	chr7:66463200-66483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:66463200-66484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:66463200-66487400	Weak transcription	NH-A	brain
14	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:66468600-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:66469000-66484400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
19	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
22	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:66470400-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:66470400-66488000	Strong transcription	Dnd41	blood
25	chr7:66470400-66489000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:66470600-66485400	Strong transcription	Placenta	Placenta
28	chr7:66470600-66492600	Strong transcription	Liver	Liver
29	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:66472400-66484600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:66472400-66485400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:66472600-66483400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:66472600-66487000	Weak transcription	A549	lung
34	chr7:66472800-66484400	Weak transcription	Hela-S3	cervix
35	chr7:66473600-66484000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:66474000-66492200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:66474600-66484800	Weak transcription	HSMM	muscle
38	chr7:66474600-66484800	Weak transcription	HSMMtube	muscle
39	chr7:66475200-66485600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:66476000-66486600	Strong transcription	Left Ventricle	heart
41	chr7:66476600-66487400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:66476800-66483000	Weak transcription	K562	blood
43	chr7:66476800-66484800	Weak transcription	NHDF-Ad	bronchial
44	chr7:66476800-66496800	Weak transcription	NHLF	lung
45	chr7:66477000-66484600	Weak transcription	Primary B cells from cord blood	blood
46	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
47	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
48	chr7:66478000-66484600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:66478000-66488200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:66478000-66488400	Strong transcription	Fetal Intestine Large	intestine

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