Variant report

Variant	esv3518380
Chromosome Location	chr7:71751063-71753149
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: 104 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4719222	chr7:71751116-71751117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538829336	chr7:71751120-71751121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531058497	chr7:71751191-71751192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565617817	chr7:71751200-71751201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76295683	chr7:71751231-71751232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146367696	chr7:71751234-71751235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139087646	chr7:71751257-71751258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543017434	chr7:71751299-71751300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12699131	chr7:71751316-71751317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
10	rs148952680	chr7:71751336-71751337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369791805	chr7:71751348-71751349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541219649	chr7:71751361-71751362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559922509	chr7:71751515-71751516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530250206	chr7:71751552-71751553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143729052	chr7:71751562-71751563	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563635583	chr7:71751595-71751596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148135049	chr7:71751645-71751646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552645845	chr7:71751646-71751647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571563145	chr7:71751703-71751704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532478083	chr7:71751707-71751708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547599069	chr7:71751743-71751744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531406436	chr7:71751749-71751750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184240543	chr7:71751751-71751752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536077818	chr7:71751762-71751763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371990579	chr7:71751764-71751765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569658944	chr7:71751768-71751769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368824186	chr7:71751790-71751791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549474250	chr7:71751792-71751793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189656030	chr7:71751798-71751799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558174785	chr7:71751811-71751812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577096936	chr7:71751813-71751814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141959781	chr7:71751830-71751831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs193088319	chr7:71751836-71751837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146143241	chr7:71751890-71751891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs139021962	chr7:71751909-71751910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563795759	chr7:71751964-71751965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142291878	chr7:71751975-71751976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546198462	chr7:71752003-71752004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538430373	chr7:71752014-71752015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564507799	chr7:71752045-71752046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558434919	chr7:71752052-71752053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547641656	chr7:71752060-71752061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571924553	chr7:71752076-71752077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546319204	chr7:71752117-71752118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76604383	chr7:71752227-71752228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529855870	chr7:71752242-71752243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548122749	chr7:71752283-71752284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553696725	chr7:71752286-71752287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10950305	chr7:71752304-71752305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369265253	chr7:71752320-71752321	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:18 , 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	chr7:71750200-71752400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:71750200-71753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71750600-71751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71750600-71752400	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:71750800-71751400	Enhancers	Thymus	Thymus
8	chr7:71750800-71752400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:71750800-71753200	Enhancers	Fetal Thymus	thymus
10	chr7:71751200-71752200	Enhancers	Adipose Nuclei	Adipose
11	chr7:71751400-71752000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:71751400-71752200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:71751400-71755200	Weak transcription	Thymus	Thymus
14	chr7:71752000-71752400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:71752200-71753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71752400-71752800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:71752400-71753200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:71752400-71755200	Weak transcription	Primary hematopoietic stem cells	blood

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