Variant report

Variant	esv3362721
Chromosome Location	chr7:71080766-71082989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538480743	chr7:71080776-71080777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528423341	chr7:71080856-71080857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547636252	chr7:71080858-71080859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565870038	chr7:71080874-71080875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541750487	chr7:71080929-71080930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535825202	chr7:71080936-71080937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554192152	chr7:71080978-71080979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73702237	chr7:71080993-71080994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183306859	chr7:71081001-71081002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558389810	chr7:71081012-71081013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187015659	chr7:71081041-71081042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541295034	chr7:71081069-71081070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190998932	chr7:71081127-71081128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575256174	chr7:71081192-71081193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542233598	chr7:71081199-71081200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563635902	chr7:71081202-71081203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114585087	chr7:71081213-71081214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77025093	chr7:71081231-71081232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6460677	chr7:71081245-71081246	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74347535	chr7:71081254-71081255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146616322	chr7:71081256-71081257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200447078	chr7:71081271-71081272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77062762	chr7:71081276-71081277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533037791	chr7:71081277-71081278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73187141	chr7:71081279-71081280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569281278	chr7:71081309-71081310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536662976	chr7:71081317-71081318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148318685	chr7:71081326-71081327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570479597	chr7:71081460-71081461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13230550	chr7:71081495-71081496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140469560	chr7:71081501-71081502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150399761	chr7:71081543-71081544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553328375	chr7:71081564-71081565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372856653	chr7:71081614-71081615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542495686	chr7:71081643-71081644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555133486	chr7:71081686-71081687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111057127	chr7:71081695-71081696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66892105	chr7:71081696-71081697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375929455	chr7:71081699-71081700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11761980	chr7:71081703-71081704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369129398	chr7:71081734-71081735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370076245	chr7:71081740-71081741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72344503	chr7:71081741-71081742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140956954	chr7:71081744-71081745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141854133	chr7:71081778-71081779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377219124	chr7:71081803-71081804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146264239	chr7:71081849-71081850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373441382	chr7:71081864-71081865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377338289	chr7:71081865-71081866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369212900	chr7:71081866-71081867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	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
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71075400-71080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:71076200-71080800	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:71076200-71081400	Enhancers	Fetal Muscle Leg	muscle
4	chr7:71077000-71081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:71077200-71081200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:71077200-71081400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:71077200-71081400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:71077400-71080800	Enhancers	Fetal Heart	heart
9	chr7:71077400-71081400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:71077800-71081000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:71078000-71080800	Enhancers	Fetal Lung	lung
12	chr7:71078400-71084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:71078400-71085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:71078600-71081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:71078600-71081000	Enhancers	Fetal Brain Male	brain
16	chr7:71078600-71083200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:71079400-71080800	Enhancers	Brain Hippocampus Middle	brain
18	chr7:71079400-71080800	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:71079400-71081000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:71079400-71081000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:71079400-71081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:71079400-71085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:71080000-71081000	Enhancers	Aorta	Aorta
24	chr7:71080000-71081400	Enhancers	Left Ventricle	heart
25	chr7:71080200-71081000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:71080200-71083000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:71080200-71083600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:71080200-71086200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:71080200-71090200	Weak transcription	Fetal Brain Female	brain
30	chr7:71080200-71092200	Weak transcription	Ovary	ovary
31	chr7:71080400-71082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:71080400-71082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:71080400-71082800	Weak transcription	HSMM	muscle
34	chr7:71080400-71082800	Weak transcription	HSMMtube	muscle
35	chr7:71080400-71083000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:71080400-71083000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:71080400-71083200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:71080400-71084800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:71080400-71084800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:71080400-71090600	Weak transcription	NH-A	brain
41	chr7:71080600-71081000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:71080600-71081000	Enhancers	Psoas Muscle	Psoas
43	chr7:71080800-71083000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:71080800-71091800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:71081000-71081200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:71081000-71082800	Weak transcription	Fetal Brain Male	brain
47	chr7:71081000-71084600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:71081000-71088600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:71081200-71084800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:71081400-71082800	Weak transcription	Fetal Muscle Leg	muscle

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