Variant report

Variant	nsv975848
Chromosome Location	chr11:57910626-57912428
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	KAT2A	chr11:57911792-57911991	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OR9I2P	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148870097	chr11:57910638-57910639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567683952	chr11:57910687-57910688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1447178	chr11:57910711-57910712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556864957	chr11:57910738-57910739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534514474	chr11:57910753-57910754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578213076	chr11:57910760-57910761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539196930	chr11:57910796-57910797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182519367	chr11:57910805-57910806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143626039	chr11:57910867-57910868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186801726	chr11:57910876-57910877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191318785	chr11:57910886-57910887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147638260	chr11:57910944-57910945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576016996	chr11:57910948-57910949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543341855	chr11:57910957-57910958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142229153	chr11:57911011-57911012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532275943	chr11:57911016-57911017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547161162	chr11:57911020-57911021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183465703	chr11:57911067-57911068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527762737	chr11:57911153-57911154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549480943	chr11:57911156-57911157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567546343	chr11:57911157-57911158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538280744	chr11:57911159-57911160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549919637	chr11:57911188-57911189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188874724	chr11:57911190-57911191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35919066	chr11:57911205-57911206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146416802	chr11:57911225-57911226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554373243	chr11:57911274-57911275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547923104	chr11:57911278-57911279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193222162	chr11:57911287-57911288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554697432	chr11:57911351-57911352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185313888	chr11:57911362-57911363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543359420	chr11:57911369-57911370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559025610	chr11:57911379-57911380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576766874	chr11:57911388-57911389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190161641	chr11:57911421-57911422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368881189	chr11:57911428-57911429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116534675	chr11:57911438-57911439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2513719	chr11:57911596-57911597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529944641	chr11:57911607-57911608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577410714	chr11:57911615-57911616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141488209	chr11:57911704-57911705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561395847	chr11:57911721-57911722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562275605	chr11:57911767-57911768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181422501	chr11:57911778-57911779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571684386	chr11:57911816-57911817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs12270916	chr11:57911844-57911845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184132890	chr11:57911861-57911862	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548137467	chr11:57911894-57911895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566274700	chr11:57911901-57911902	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs148155446	chr11:57911909-57911910	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57909600-57910800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:57910400-57910800	Enhancers	Fetal Lung	lung
3	chr11:57910800-57911200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:57911200-57912800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links