Variant report

Variant	esv3405873
Chromosome Location	chr7:120289716-120292464
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	chr7:120281527..120283398-chr7:120292332..120293978,2	MCF-7	breast:
2	chr7:120291914..120293700-chr7:120295106..120297347,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551038104	chr7:120291405-120291406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561253420	chr7:120291416-120291417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184442688	chr7:120291452-120291453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150506153	chr7:120291471-120291472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189321460	chr7:120291475-120291476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139532309	chr7:120291476-120291477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528359639	chr7:120291477-120291478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182019433	chr7:120291479-120291480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185687702	chr7:120291503-120291504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189050521	chr7:120291512-120291513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34906557	chr7:120291597-120291598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149692379	chr7:120291618-120291619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs386717265	chr7:120291619-120291620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4730970	chr7:120291620-120291621	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577038721	chr7:120291626-120291627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147834941	chr7:120291652-120291653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186282723	chr7:120291657-120291658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558856209	chr7:120291658-120291659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs35829023	chr7:120291681-120291682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10227371	chr7:120291684-120291685	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544326977	chr7:120291691-120291692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375767965	chr7:120291708-120291709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561426323	chr7:120291724-120291725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190352836	chr7:120291735-120291736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540726731	chr7:120291736-120291737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120291400-120291800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links