Variant report

Variant	esv3354098
Chromosome Location	chr7:66650467-66652315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191939484	chr7:66650489-66650490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565869094	chr7:66650554-66650555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534769303	chr7:66650555-66650556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182953921	chr7:66650560-66650561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557800181	chr7:66650572-66650573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572811746	chr7:66650575-66650576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577831897	chr7:66650685-66650686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2421401	chr7:66650687-66650688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113003750	chr7:66650688-66650689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187547392	chr7:66650703-66650704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2421400	chr7:66650711-66650712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2844124	chr7:66650716-66650717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs552680133	chr7:66650739-66650740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573002749	chr7:66650873-66650874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545147117	chr7:66650895-66650896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199899642	chr7:66650973-66650974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530738103	chr7:66650991-66650992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373628328	chr7:66651007-66651008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192532783	chr7:66651043-66651044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201496375	chr7:66651084-66651085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76121858	chr7:66651099-66651100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549384778	chr7:66651113-66651114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563825180	chr7:66651136-66651137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2687031	chr7:66651185-66651186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531369179	chr7:66651198-66651199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528432133	chr7:66651218-66651219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201987182	chr7:66651225-66651226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541563412	chr7:66651229-66651230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs68120749	chr7:66651270-66651271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77430931	chr7:66651274-66651275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150959793	chr7:66651275-66651276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371838684	chr7:66651276-66651277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200178957	chr7:66651292-66651293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35687064	chr7:66651314-66651315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs557261909	chr7:66651339-66651340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376657831	chr7:66651349-66651350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559951614	chr7:66651352-66651353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115928377	chr7:66651364-66651365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2948334	chr7:66651365-66651366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185705656	chr7:66651366-66651367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553674712	chr7:66651369-66651370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572893106	chr7:66651377-66651378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546982502	chr7:66651390-66651391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558691352	chr7:66651437-66651438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575410323	chr7:66651465-66651466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374640189	chr7:66651471-66651472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544427505	chr7:66651500-66651501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566884175	chr7:66651510-66651511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536249029	chr7:66651517-66651518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540171190	chr7:66651557-66651558	Weak transcription Enhancers	n/a	n/a	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
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:66641800-66654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:66643000-66660000	Weak transcription	Dnd41	blood
6	chr7:66643200-66654200	Weak transcription	Pancreas	Pancrea
7	chr7:66644400-66659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:66644600-66654400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:66644600-66659400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:66644800-66654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:66644800-66660200	Weak transcription	Adipose Nuclei	Adipose
13	chr7:66645000-66657600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:66645000-66660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:66645800-66655600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:66645800-66660000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:66647000-66677400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:66647200-66654200	Weak transcription	Left Ventricle	heart
19	chr7:66647600-66657800	Weak transcription	Right Atrium	heart
20	chr7:66647600-66661400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:66647800-66659800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:66647800-66660000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:66648200-66654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:66648200-66654200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:66648200-66679800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:66648800-66667200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:66649000-66650600	Enhancers	Fetal Lung	lung
28	chr7:66649000-66658200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:66649200-66650800	Enhancers	GM12878-XiMat	blood
30	chr7:66649200-66677200	Weak transcription	Right Ventricle	heart
31	chr7:66649200-66679200	Weak transcription	NHEK	skin
32	chr7:66649600-66654400	Weak transcription	Primary T cells from cord blood	blood
33	chr7:66650000-66660000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:66650200-66650600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:66650200-66650600	Enhancers	Fetal Stomach	stomach
36	chr7:66650200-66650600	Enhancers	Fetal Thymus	thymus
37	chr7:66650200-66650600	Enhancers	K562	blood
38	chr7:66650200-66650800	Enhancers	HSMM	muscle
39	chr7:66650200-66650800	Enhancers	HSMMtube	muscle
40	chr7:66650200-66657800	Weak transcription	Ovary	ovary
41	chr7:66650400-66650800	Enhancers	Fetal Heart	heart
42	chr7:66650600-66651400	Weak transcription	Fetal Lung	lung
43	chr7:66650600-66654200	Weak transcription	K562	blood
44	chr7:66650600-66655400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:66650600-66655800	Weak transcription	Fetal Thymus	thymus
46	chr7:66650600-66661800	Weak transcription	Fetal Stomach	stomach
47	chr7:66650800-66651200	Weak transcription	GM12878-XiMat	blood
48	chr7:66650800-66654200	Weak transcription	HSMMtube	muscle
49	chr7:66650800-66654800	Weak transcription	HSMM	muscle
50	chr7:66651200-66651800	Enhancers	GM12878-XiMat	blood

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