Variant report

Variant	esv3440077
Chromosome Location	chr13:93165001-93167499
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	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
2	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559115420	chr13:93165035-93165036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559980142	chr13:93165065-93165066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76670397	chr13:93165087-93165088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573326055	chr13:93165108-93165109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77021126	chr13:93165205-93165206	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565287053	chr13:93165211-93165212	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369421000	chr13:93165216-93165217	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186340430	chr13:93165248-93165249	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190062409	chr13:93165249-93165250	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12430838	chr13:93165259-93165260	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547263142	chr13:93165270-93165271	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181313459	chr13:93165280-93165281	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185965751	chr13:93165370-93165371	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76167730	chr13:93165385-93165386	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377413774	chr13:93165391-93165392	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138278239	chr13:93165392-93165393	ZNF genes & repeats Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536680980	chr13:93165423-93165424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114303850	chr13:93165424-93165425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573642791	chr13:93165438-93165439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2780743	chr13:93165439-93165440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536576667	chr13:93165448-93165449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149259700	chr13:93165453-93165454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572906625	chr13:93165498-93165499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545507754	chr13:93165501-93165502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565202876	chr13:93165515-93165516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564851724	chr13:93165519-93165520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544646663	chr13:93165546-93165547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545570277	chr13:93165569-93165570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561264774	chr13:93165621-93165622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190733040	chr13:93165660-93165661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373455637	chr13:93165699-93165700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530701857	chr13:93165723-93165724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35892694	chr13:93165724-93165725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60939622	chr13:93165736-93165737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs67139885	chr13:93165737-93165738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377525690	chr13:93165760-93165761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560688640	chr13:93165771-93165772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147286069	chr13:93165798-93165799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71737823	chr13:93165802-93165803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532562456	chr13:93165804-93165805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552722147	chr13:93165805-93165806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113776853	chr13:93165806-93165807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111241099	chr13:93165807-93165808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530623952	chr13:93165809-93165810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375455951	chr13:93165813-93165814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368489588	chr13:93165818-93165819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201997409	chr13:93165825-93165826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370554584	chr13:93165848-93165849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550198844	chr13:93165911-93165912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144508131	chr13:93165915-93165916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93157000-93165200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:93163200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:93163200-93165200	Weak transcription	NH-A	brain
4	chr13:93163200-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:93164200-93165200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:93164200-93165200	Weak transcription	NHEK	skin
7	chr13:93164200-93167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:93164400-93166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:93165000-93165400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:93165200-93165400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:93165200-93165400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:93165200-93165400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:93165200-93165400	Enhancers	NH-A	brain
14	chr13:93165200-93167000	Enhancers	NHEK	skin
15	chr13:93165400-93165800	Weak transcription	NH-A	brain
16	chr13:93165400-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:93165400-93171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:93165800-93166200	Enhancers	NH-A	brain
19	chr13:93165800-93166400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:93166600-93166800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:93166800-93167000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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