Variant report

Variant	esv3398998
Chromosome Location	chr7:71420936-71421456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7803466	chr7:71420945-71420946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs137936972	chr7:71420976-71420977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201705644	chr7:71420980-71420981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575265082	chr7:71420988-71420989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59303454	chr7:71420990-71420991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570239128	chr7:71421000-71421001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184198262	chr7:71421083-71421084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10259553	chr7:71421085-71421086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571097992	chr7:71421136-71421137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544555239	chr7:71421137-71421138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534711674	chr7:71421155-71421156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118024080	chr7:71421162-71421163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574633900	chr7:71421192-71421193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186634312	chr7:71421193-71421194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554372011	chr7:71421212-71421213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191392881	chr7:71421240-71421241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58531566	chr7:71421257-71421258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543571676	chr7:71421268-71421269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149994147	chr7:71421273-71421274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577022695	chr7:71421332-71421333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10259883	chr7:71421357-71421358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559385187	chr7:71421371-71421372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371657220	chr7:71421400-71421401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548288258	chr7:71421401-71421402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563359561	chr7:71421419-71421420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34744971	chr7:71421439-71421440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1017048	chr7:71421446-71421447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184541048	chr7:71421447-71421448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71400400-71424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71401200-71431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71403400-71431000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71408000-71430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71409400-71430800	Weak transcription	Fetal Thymus	thymus
6	chr7:71420400-71423400	Weak transcription	Thymus	Thymus

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