Variant report

Variant	esv3391292
Chromosome Location	chr10:4421602-4424800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr10:4421903-4422493	Hela-S3	cervix:	n/a	chr10:4422270-4422284 chr10:4422271-4422282 chr10:4422267-4422287 chr10:4422273-4422281

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF6-15	chr10:4423702-4423927	l_241_chr10:4417616-4438544_testes
2	lnc-KLF6-15	chr10:4424095-4424147	l_241_chr10:4417616-4438544_testes

Variant related genes	Relation type
LINC00703	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34203312	chr10:4421611-4421612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531880690	chr10:4421651-4421652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182673467	chr10:4421682-4421683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571799144	chr10:4421691-4421692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77761874	chr10:4421732-4421733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144182792	chr10:4421739-4421740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566458078	chr10:4421743-4421744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529812291	chr10:4421787-4421788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533738097	chr10:4421798-4421799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146587633	chr10:4421803-4421804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140065000	chr10:4421812-4421813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541756876	chr10:4421818-4421819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538127059	chr10:4421848-4421849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556530564	chr10:4421853-4421854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563219261	chr10:4421868-4421869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188823262	chr10:4421870-4421871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370807891	chr10:4421886-4421887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544897437	chr10:4421962-4421963	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74111157	chr10:4421967-4421968	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146843898	chr10:4421972-4421973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs202085809	chr10:4422040-4422041	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542760383	chr10:4422042-4422043	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs61831460	chr10:4422053-4422054	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560937682	chr10:4422054-4422055	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531631231	chr10:4422110-4422111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543688924	chr10:4422116-4422117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192823152	chr10:4422126-4422127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2025774	chr10:4422143-4422144	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs552277704	chr10:4422151-4422152	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547680505	chr10:4422214-4422215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148970848	chr10:4422245-4422246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184071602	chr10:4422293-4422294	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2025773	chr10:4422320-4422321	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113269702	chr10:4422326-4422327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11252501	chr10:4422373-4422374	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556469033	chr10:4422374-4422375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143820696	chr10:4422414-4422415	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538779464	chr10:4422433-4422434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553683077	chr10:4422469-4422470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572246710	chr10:4422503-4422504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7914076	chr10:4422506-4422507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200354561	chr10:4422533-4422534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143757980	chr10:4422537-4422538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536044840	chr10:4422538-4422539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528663631	chr10:4422559-4422560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368780866	chr10:4422562-4422563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114510572	chr10:4422577-4422578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562231148	chr10:4422582-4422583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372186169	chr10:4422589-4422590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34414668	chr10:4422603-4422604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4416200-4424000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:4424200-4424400	Enhancers	Fetal Brain Male	brain
3	chr10:4424200-4425600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:4424400-4425400	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links