Variant report

Variant	esv3477684
Chromosome Location	chr7:71142916-71147514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs575132513	chr7:71142929-71142930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188112008	chr7:71142945-71142946	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566190313	chr7:71142953-71142954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572059715	chr7:71142956-71142957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111307160	chr7:71143080-71143081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139836737	chr7:71143088-71143089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575550364	chr7:71143095-71143096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569763428	chr7:71143121-71143122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540409126	chr7:71143162-71143163	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370156253	chr7:71143190-71143191	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143156822	chr7:71143195-71143196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376338923	chr7:71143213-71143214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180951615	chr7:71143233-71143234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186150655	chr7:71143237-71143238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73354140	chr7:71143238-71143239	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113858791	chr7:71143260-71143261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560984825	chr7:71143300-71143301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs861503	chr7:71143331-71143332	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566950173	chr7:71143358-71143359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534324066	chr7:71143361-71143362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113258824	chr7:71143367-71143368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151094081	chr7:71143431-71143432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62458991	chr7:71143460-71143461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146611511	chr7:71143461-71143462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568831429	chr7:71143466-71143467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112629660	chr7:71143471-71143472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139139710	chr7:71143489-71143490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190958346	chr7:71143491-71143492	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572591040	chr7:71143499-71143500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563698251	chr7:71143521-71143522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183496762	chr7:71143653-71143654	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141606689	chr7:71143672-71143673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186780806	chr7:71143706-71143707	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150403459	chr7:71143752-71143753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367817241	chr7:71143759-71143760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563169611	chr7:71143772-71143773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533695606	chr7:71143773-71143774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565685883	chr7:71143779-71143780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71089973	chr7:71143780-71143781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545404817	chr7:71143811-71143812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138127537	chr7:71143863-71143864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527786807	chr7:71143897-71143898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192085037	chr7:71143905-71143906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567666602	chr7:71143928-71143929	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182967362	chr7:71143929-71143930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550528799	chr7:71143935-71143936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35898355	chr7:71143941-71143942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71089974	chr7:71143942-71143943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568792602	chr7:71144014-71144015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548056	chr7:71144041-71144042	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71118400-71147800	Weak transcription	Fetal Brain Male	brain
2	chr7:71120800-71147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:71126400-71147600	Weak transcription	Fetal Lung	lung
4	chr7:71131000-71147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:71131600-71147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:71133400-71144000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:71134800-71147800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:71140800-71162000	Weak transcription	Aorta	Aorta
9	chr7:71141000-71147800	Weak transcription	Right Ventricle	heart
10	chr7:71141400-71144200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:71141400-71145800	Weak transcription	Fetal Stomach	stomach
12	chr7:71141600-71144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:71141800-71143200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:71142000-71143200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:71142000-71144200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:71142000-71144600	Strong transcription	Ovary	ovary
17	chr7:71142200-71148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:71142400-71147800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:71142400-71149200	Weak transcription	Spleen	Spleen
20	chr7:71142600-71144000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:71142600-71144400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:71142600-71144400	Strong transcription	Fetal Muscle Leg	muscle
23	chr7:71142800-71143200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:71143200-71143600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:71143200-71144200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:71143200-71144400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:71143600-71144600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:71144000-71144200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:71144000-71144800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:71144200-71144400	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:71144200-71144800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:71144200-71144800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:71144200-71146400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:71144400-71144600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:71144400-71145800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:71144400-71146000	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:71144400-71147400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:71144600-71144800	Enhancers	Brain Angular Gyrus	brain
39	chr7:71144600-71145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:71144600-71147400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:71144600-71149000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:71144600-71149000	Weak transcription	Ovary	ovary
43	chr7:71144800-71145600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:71144800-71146600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:71144800-71147600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:71144800-71151800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:71145600-71147400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:71145800-71146400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:71145800-71146600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr7:71145800-71146600	ZNF genes & repeats	Fetal Stomach	stomach

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