Variant report

Variant	esv3450540
Chromosome Location	chr7:71698572-71698830
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	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565942996	chr7:71698582-71698583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183496147	chr7:71698600-71698601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528408757	chr7:71698612-71698613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555146685	chr7:71698685-71698686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576457236	chr7:71698708-71698709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187502116	chr7:71698710-71698711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140046343	chr7:71698741-71698742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577882505	chr7:71698755-71698756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192201042	chr7:71698757-71698758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs472884	chr7:71698764-71698765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527525416	chr7:71698765-71698766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71688400-71709200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71688600-71714000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71688800-71702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:71693200-71702800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:71697400-71698600	Weak transcription	Thymus	Thymus
6	chr7:71697800-71699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71698200-71698600	Strong transcription	Fetal Thymus	thymus
8	chr7:71698600-71698800	Weak transcription	Fetal Thymus	thymus
9	chr7:71698600-71698800	Enhancers	Thymus	Thymus
10	chr7:71698800-71699200	Weak transcription	Thymus	Thymus
11	chr7:71698800-71699400	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links