Variant report

Variant	esv3374929
Chromosome Location	chr7:66843317-66848115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66842963..66843775-chr7:69626464..69627151,2	K562	blood:
2	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
3	chr7:66843189..66843805-chr7:66948880..66949474,3	MCF-7	breast:
4	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
5	chr7:66842914..66843798-chr7:69396772..69397448,2	MCF-7	breast:
6	chr7:66840245..66841805-chr7:66844948..66846496,2	MCF-7	breast:
7	chr7:66843114..66843901-chr7:67089975..67090726,3	MCF-7	breast:

Extended variants
information (count: 205 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs575463655	chr7:66843380-66843381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs181730727	chr7:66843382-66843383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs530271706	chr7:66843406-66843407	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549974658	chr7:66843470-66843471	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76559570	chr7:66843494-66843495	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548177206	chr7:66843526-66843527	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568053813	chr7:66843538-66843539	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145514800	chr7:66843555-66843556	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527542813	chr7:66843628-66843629	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547664367	chr7:66843643-66843644	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75790900	chr7:66843648-66843649	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144177207	chr7:66843685-66843686	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555966990	chr7:66843709-66843710	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62467579	chr7:66843710-66843711	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs12698579	chr7:66843712-66843713	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs554496645	chr7:66843713-66843714	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574773759	chr7:66843735-66843736	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375967162	chr7:66843736-66843737	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554432024	chr7:66843753-66843754	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148658094	chr7:66843757-66843758	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76262743	chr7:66843768-66843769	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546393043	chr7:66843784-66843785	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563093068	chr7:66843787-66843788	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11771384	chr7:66843791-66843792	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555003006	chr7:66843792-66843793	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77699047	chr7:66843821-66843822	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs561676382	chr7:66843852-66843853	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs142176844	chr7:66843862-66843863	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs547110627	chr7:66843873-66843874	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs564383450	chr7:66843918-66843919	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs533077960	chr7:66843979-66843980	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs150735628	chr7:66843982-66843983	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569524653	chr7:66843991-66843992	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs10085684	chr7:66844011-66844012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs548654199	chr7:66844023-66844024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576385563	chr7:66844030-66844031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17786435	chr7:66844039-66844040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs79293486	chr7:66844041-66844042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78187406	chr7:66844067-66844068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564720118	chr7:66844068-66844069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553902887	chr7:66844084-66844085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35865166	chr7:66844099-66844100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57418916	chr7:66844103-66844104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577581644	chr7:66844104-66844105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78707287	chr7:66844108-66844109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6947353	chr7:66844153-66844154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs556744701	chr7:66844162-66844163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143955463	chr7:66844195-66844196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544172030	chr7:66844233-66844234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542480941	chr7:66844248-66844249	Weak transcription Enhancers	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66840800-66843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:66842800-66843600	Enhancers	Fetal Brain Female	brain
3	chr7:66842800-66844000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:66842800-66844000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:66842800-66844200	Enhancers	Fetal Muscle Leg	muscle
6	chr7:66843000-66843600	Enhancers	Fetal Brain Male	brain
7	chr7:66843000-66843800	Enhancers	Brain Hippocampus Middle	brain
8	chr7:66843000-66843800	Enhancers	Spleen	Spleen
9	chr7:66843000-66844000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:66843000-66844000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:66843000-66844000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:66843000-66847200	Enhancers	Fetal Stomach	stomach
13	chr7:66843200-66843600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:66843200-66843600	Enhancers	Pancreas	Pancrea
15	chr7:66843200-66843600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr7:66843200-66843800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:66843200-66843800	Enhancers	Brain Anterior Caudate	brain
18	chr7:66843200-66843800	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:66843200-66843800	Enhancers	Brain Germinal Matrix	brain
20	chr7:66843200-66843800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:66843200-66843800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:66843200-66844000	Enhancers	Colon Smooth Muscle	Colon
23	chr7:66843200-66844000	Enhancers	Ovary	ovary
24	chr7:66843400-66843600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr7:66843400-66843600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr7:66843400-66843600	Enhancers	Esophagus	oesophagus
27	chr7:66843400-66843800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr7:66843400-66843800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:66843400-66843800	Enhancers	Fetal Lung	lung
30	chr7:66843400-66843800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:66843600-66843800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:66843600-66843800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:66843800-66844000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr7:66843800-66844800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:66843800-66845000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:66843800-66845000	Weak transcription	Fetal Lung	lung
37	chr7:66843800-66845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:66843800-66845400	Weak transcription	Spleen	Spleen
39	chr7:66844000-66845000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:66844000-66845000	Weak transcription	Ovary	ovary
41	chr7:66844200-66844800	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:66844800-66845000	Enhancers	Fetal Muscle Leg	muscle
43	chr7:66844800-66845400	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:66845000-66845200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:66845000-66845200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:66845000-66845200	Enhancers	Fetal Lung	lung
47	chr7:66845200-66845400	Bivalent Enhancer	Fetal Lung	lung
48	chr7:66845200-66845400	Enhancers	Ovary	ovary
49	chr7:66845200-66845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:66845200-66845600	ZNF genes & repeats	Fetal Kidney	kidney

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