Variant report

Variant	esv3333259
Chromosome Location	chr7:70315946-70316579
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	chr7:70316123..70316992-chr7:71197861..71198674,2	K562	blood:
2	chr7:70309809..70312680-chr7:70313436..70316301,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560630611	chr7:70315962-70315963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376326006	chr7:70315998-70315999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187040166	chr7:70316020-70316021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192243649	chr7:70316039-70316040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567501580	chr7:70316055-70316056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184352799	chr7:70316092-70316093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113325412	chr7:70316118-70316119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190417447	chr7:70316123-70316124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs193242178	chr7:70316147-70316148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571998165	chr7:70316151-70316152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs35352205	chr7:70316158-70316159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184527481	chr7:70316171-70316172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77422999	chr7:70316175-70316176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566273349	chr7:70316189-70316190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533607140	chr7:70316213-70316214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74356478	chr7:70316282-70316283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150609089	chr7:70316283-70316284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372966686	chr7:70316305-70316306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375937411	chr7:70316360-70316361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6460575	chr7:70316365-70316366	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556015746	chr7:70316386-70316387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577560726	chr7:70316391-70316392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146487588	chr7:70316444-70316445	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11273648	chr7:70316450-70316451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373002081	chr7:70316492-70316493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62459627	chr7:70316520-70316521	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371392351	chr7:70316524-70316525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs34156143	chr7:70316538-70316539	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527482975	chr7:70316553-70316554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138105137	chr7:70316561-70316562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs13243605	chr7:70316564-70316565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs189358703	chr7:70316575-70316576	Weak transcription ZNF genes & repeats	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
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70315000-70321600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:70316000-70316800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links