Variant report

Variant	esv3493518
Chromosome Location	chr7:71756948-71757876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377211733	chr7:71756948-71756949	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs6460711	chr7:71756949-71756950	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576312816	chr7:71756950-71756951	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533928666	chr7:71756967-71756968	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141637172	chr7:71756973-71756974	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78463452	chr7:71756986-71756987	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10244985	chr7:71756998-71756999	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565224843	chr7:71757023-71757024	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577319366	chr7:71757024-71757025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185452388	chr7:71757070-71757071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150525040	chr7:71757082-71757083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574865855	chr7:71757103-71757104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62459264	chr7:71757124-71757125	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563641641	chr7:71757128-71757129	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556512916	chr7:71757135-71757136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139516860	chr7:71757145-71757146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375914724	chr7:71757169-71757170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142777377	chr7:71757200-71757201	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532326557	chr7:71757208-71757209	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547324206	chr7:71757243-71757244	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561545213	chr7:71757264-71757265	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190954044	chr7:71757298-71757299	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182087360	chr7:71757316-71757317	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550039379	chr7:71757322-71757323	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569279046	chr7:71757328-71757329	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574993074	chr7:71757352-71757353	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536650066	chr7:71757357-71757358	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558783069	chr7:71757365-71757366	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570047182	chr7:71757420-71757421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117051263	chr7:71757479-71757480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535645758	chr7:71757507-71757508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574995057	chr7:71757511-71757512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186727423	chr7:71757514-71757515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563774725	chr7:71757526-71757527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376983278	chr7:71757636-71757637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575669581	chr7:71757672-71757673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565591448	chr7:71757674-71757675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546261809	chr7:71757675-71757676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565183824	chr7:71757677-71757678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191923792	chr7:71757680-71757681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547553003	chr7:71757687-71757688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559248451	chr7:71757699-71757700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199615574	chr7:71757705-71757706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529860953	chr7:71757707-71757708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13241064	chr7:71757718-71757719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547832634	chr7:71757722-71757723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547904608	chr7:71757733-71757734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530415666	chr7:71757747-71757748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147402685	chr7:71757755-71757756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371098418	chr7:71757761-71757762	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71732600-71760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71732800-71758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71756000-71757000	ZNF genes & repeats	Fetal Thymus	thymus
4	chr7:71756600-71757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71756600-71757200	Weak transcription	Thymus	Thymus
6	chr7:71756600-71757800	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:71756800-71757000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:71756800-71757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:71757000-71757200	Strong transcription	Fetal Thymus	thymus
10	chr7:71757000-71758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:71757200-71757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:71757200-71757400	Genic enhancers	Fetal Thymus	thymus
13	chr7:71757200-71758400	Enhancers	Dnd41	blood
14	chr7:71757200-71758800	Enhancers	Thymus	Thymus
15	chr7:71757400-71757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71757400-71758800	Enhancers	Fetal Thymus	thymus
17	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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