Variant report

Variant	nsv972031
Chromosome Location	chr11:57634590-57637890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:57636100-57636429	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr11:57636115-57636315	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr11:57636059-57636372	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr11:57635653-57636272	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr11:57635904-57636614	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr11:57635908-57636449	H1-hESC	embryonic stem cell:	n/a	n/a
7	GTF2F1	chr11:57636178-57636304	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr11:57636162-57636395	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr11:57636021-57636390	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:57635842-57636441	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:57635869-57636582	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:57635830-57636463	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr11:57636007-57636457	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr11:57636064-57636429	H1-hESC	embryonic stem cell:	n/a	n/a
15	NANOG	chr11:57635978-57636349	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:57635917-57636264	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:57635959-57636149	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:57635999-57636305	H1-hESC	embryonic stem cell:	n/a	n/a
19	POU5F1	chr11:57635983-57636439	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr11:57635851-57636442	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr11:57636081-57636311	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr11:57635867-57636485	H1-hESC	embryonic stem cell:	n/a	chr11:57636128-57636139
23	SP1	chr11:57636023-57636464	H1-hESC	embryonic stem cell:	n/a	chr11:57636128-57636139
24	TBP	chr11:57636004-57636363	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr11:57635946-57636426	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF12	chr11:57635917-57636411	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr11:57635506-57636430	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr11:57635903-57636337	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57635955..57636712-chr6:19077249..19077858,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD18-1	chr11:57637794-57638043	NONHSAT021458

No data

Variant related genes	Relation type
OR5BA1P	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61743110	chr11:57634625-57634626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376647650	chr11:57634626-57634627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539706607	chr11:57634723-57634724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561181807	chr11:57634741-57634742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80005953	chr11:57634756-57634757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149585089	chr11:57634779-57634780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188522809	chr11:57634785-57634786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs639032	chr11:57634856-57634857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564913953	chr11:57635033-57635034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532403410	chr11:57635035-57635036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs652191	chr11:57635048-57635049	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566383895	chr11:57635056-57635057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180936939	chr11:57635173-57635174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535227904	chr11:57635207-57635208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11821756	chr11:57635208-57635209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185884372	chr11:57635218-57635219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190892136	chr11:57635230-57635231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572493660	chr11:57635234-57635235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536779099	chr11:57635355-57635356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553324821	chr11:57635359-57635360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537122428	chr11:57635418-57635419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375721478	chr11:57635482-57635483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558722144	chr11:57635499-57635500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566798386	chr11:57635500-57635501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576875177	chr11:57635546-57635547	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541194100	chr11:57635593-57635594	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534627863	chr11:57635598-57635599	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs76531539	chr11:57635606-57635607	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574682400	chr11:57635611-57635612	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144269523	chr11:57635629-57635630	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563492586	chr11:57635695-57635696	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575122758	chr11:57635704-57635705	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543493667	chr11:57635731-57635732	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182204890	chr11:57635784-57635785	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532343394	chr11:57635793-57635794	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547772963	chr11:57635797-57635798	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559529421	chr11:57635813-57635814	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148777112	chr11:57635850-57635851	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548630887	chr11:57635864-57635865	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570249727	chr11:57635876-57635877	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537655724	chr11:57635881-57635882	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552271073	chr11:57635882-57635883	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs370347926	chr11:57635898-57635899	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs666021	chr11:57635910-57635911	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113433567	chr11:57635913-57635914	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552926621	chr11:57635945-57635946	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs187196998	chr11:57635947-57635948	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377306005	chr11:57635975-57635976	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs535720468	chr11:57635977-57635978	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375000276	chr11:57635978-57635979	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57630000-57635000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57633200-57635000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:57634400-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:57634400-57640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:57634800-57637600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:57635000-57635800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:57635000-57635800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:57635000-57635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:57635000-57636200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57635000-57637400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:57635000-57637800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:57635200-57637600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:57635200-57637800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:57635400-57636200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:57635400-57637400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:57635400-57637400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:57635600-57635800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:57635600-57636000	Enhancers	Spleen	Spleen
19	chr11:57635800-57636400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:57635800-57636600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:57635800-57636600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:57635800-57640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:57636200-57637200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:57636200-57637200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:57636400-57638000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:57636600-57636800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr11:57636600-57637600	Enhancers	Adipose Nuclei	Adipose
28	chr11:57636600-57637800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:57636600-57637800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:57636800-57637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:57637200-57637400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57637200-57637400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:57637400-57640600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:57637400-57642600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:57637600-57638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:57637800-57639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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