Variant report

Variant	esv1801758
Chromosome Location	chr7:70689429-70692400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531317915	chr7:70689465-70689466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151111288	chr7:70689488-70689489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564747942	chr7:70689520-70689521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531945026	chr7:70689527-70689528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117369761	chr7:70689572-70689573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2190224	chr7:70689596-70689597	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs192772713	chr7:70689597-70689598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548073942	chr7:70689646-70689647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2190223	chr7:70689665-70689666	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs142573415	chr7:70689668-70689669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558976686	chr7:70689702-70689703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577345819	chr7:70689777-70689778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34185482	chr7:70689780-70689781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534994154	chr7:70689799-70689800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553750214	chr7:70689873-70689874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373751123	chr7:70689893-70689894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10281738	chr7:70689906-70689907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542471879	chr7:70689942-70689943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563735283	chr7:70689997-70689998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10226156	chr7:70690016-70690017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs12672193	chr7:70690079-70690080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs147923075	chr7:70690080-70690081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11980728	chr7:70690081-70690082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546984327	chr7:70690118-70690119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1636494	chr7:70690161-70690162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370246526	chr7:70690166-70690167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184081795	chr7:70690201-70690202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548416494	chr7:70690215-70690216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562279523	chr7:70690226-70690227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147051459	chr7:70690263-70690264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189245541	chr7:70690318-70690319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375962612	chr7:70690322-70690323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570955135	chr7:70690339-70690340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370506693	chr7:70690397-70690398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553415935	chr7:70690407-70690408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138173551	chr7:70690456-70690457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535796466	chr7:70690468-70690469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192110723	chr7:70690483-70690484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576991661	chr7:70690498-70690499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557596838	chr7:70690505-70690506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553226950	chr7:70690538-70690539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565301526	chr7:70690575-70690576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77006178	chr7:70690590-70690591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9638291	chr7:70690615-70690616	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs184372043	chr7:70690625-70690626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10950251	chr7:70690718-70690719	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs540684550	chr7:70690767-70690768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149561728	chr7:70690796-70690797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs529663656	chr7:70690799-70690800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541793492	chr7:70690829-70690830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70667000-70701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70684200-70692400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70685600-70691200	Weak transcription	Left Ventricle	heart
4	chr7:70685800-70689600	Weak transcription	Aorta	Aorta
5	chr7:70686000-70692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:70686800-70690400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70686800-70692800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:70687000-70700600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:70688000-70694000	Weak transcription	Right Ventricle	heart
10	chr7:70688000-70701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:70689200-70691600	Weak transcription	Ovary	ovary
12	chr7:70689400-70689600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:70689400-70689800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70689600-70689800	Enhancers	Aorta	Aorta
15	chr7:70689600-70692800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:70689800-70692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:70690400-70697200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:70691200-70692000	Enhancers	Left Ventricle	heart
19	chr7:70691400-70692000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:70691600-70693600	Enhancers	Ovary	ovary
21	chr7:70691800-70700800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:70692000-70692800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:70692000-70694400	Weak transcription	Left Ventricle	heart
24	chr7:70692400-70693000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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