Variant report

Variant	nsv983186
Chromosome Location	chr11:58744596-58759129
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	CEBPB	chr11:58745445-58745663	HepG2	liver:	n/a	chr11:58745468-58745479
2	CEBPB	chr11:58747697-58747942	A549	lung:	n/a	chr11:58747813-58747824 chr11:58747811-58747824
3	CEBPB	chr11:58747741-58747864	Hela-S3	cervix:	n/a	chr11:58747813-58747824 chr11:58747811-58747824
4	CEBPB	chr11:58745428-58745609	A549	lung:	n/a	chr11:58745468-58745479
5	CTCF	chr11:58747556-58747581	GM10266	blood:	n/a	n/a
6	CTCF	chr11:58746040-58746190	Caco-2	colon:	n/a	n/a
7	FOXA1	chr11:58744998-58745281	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:58757281-58757308	A549	lung:	n/a	n/a
9	POLR2A	chr11:58757052-58757077	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:58757188-58757233	A549	lung:	n/a	n/a
11	POLR2A	chr11:58750557-58750646	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:58757356-58757389	A549	lung:	n/a	n/a
13	POLR2A	chr11:58757166-58757181	A549	lung:	n/a	n/a
14	SPI1	chr11:58747877-58748291	HL-60	blood:	n/a	chr11:58748101-58748114 chr11:58748102-58748111 chr11:58748100-58748113
15	SPI1	chr11:58747833-58748403	HL-60	blood:	n/a	chr11:58748101-58748114 chr11:58748102-58748111 chr11:58748100-58748113

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLYATL2-2	chr11:58746601-58746798	NR_033853
2	lnc-GLYATL2-2	chr11:58746601-58746758	ENSG00000255240.1
3	lnc-GLYATL2-2	chr11:58746601-58746798	ENSG00000255240.1

Variant related genes	Relation type
GLYATL1P1	TF binding region
ENSG00000255240	TF binding region

Extended variants
information (count: 558 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577687804	chr11:58744597-58744598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144982265	chr11:58744649-58744650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553914991	chr11:58744677-58744678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572174700	chr11:58744689-58744690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370590143	chr11:58744695-58744696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184854016	chr11:58744704-58744705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563661334	chr11:58744718-58744719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188149169	chr11:58744746-58744747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180953639	chr11:58744789-58744790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371707413	chr11:58744819-58744820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185409466	chr11:58744833-58744834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374389229	chr11:58744854-58744855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573271	chr11:58744882-58744883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532199973	chr11:58744891-58744892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573237	chr11:58744895-58744896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549646547	chr11:58744938-58744939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533242372	chr11:58744949-58744950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560732801	chr11:58745014-58745015	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559725101	chr11:58745035-58745036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114759942	chr11:58745076-58745077	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567570879	chr11:58745094-58745095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531904290	chr11:58745142-58745143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77805529	chr11:58745160-58745161	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559070	chr11:58745176-58745177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs149088010	chr11:58745214-58745215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189650055	chr11:58745217-58745218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs367875909	chr11:58745241-58745242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551968186	chr11:58745244-58745245	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181699311	chr11:58745269-58745270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536019499	chr11:58745337-58745338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10896886	chr11:58745444-58745445	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116959053	chr11:58745456-58745457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35084164	chr11:58745471-58745472	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543758567	chr11:58745539-58745540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558573952	chr11:58745545-58745546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186770225	chr11:58745548-58745549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576794747	chr11:58745572-58745573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs541109169	chr11:58745590-58745591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs559141977	chr11:58745613-58745614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192121361	chr11:58745626-58745627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183336713	chr11:58745640-58745641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs561161645	chr11:58745663-58745664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78500864	chr11:58745681-58745682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77539993	chr11:58745690-58745691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571611677	chr11:58745699-58745700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186584276	chr11:58745715-58745716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547781065	chr11:58745721-58745722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565993374	chr11:58745727-58745728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536185171	chr11:58745731-58745732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537042579	chr11:58745738-58745739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Acute lymphoblastic leukemia	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58740600-58748000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:58741800-58756600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:58742200-58746200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:58742200-58748800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:58744200-58748200	Weak transcription	Primary B cells from cord blood	blood
6	chr11:58744600-58745000	Enhancers	Liver	Liver
7	chr11:58744800-58745200	Enhancers	HepG2	liver
8	chr11:58746200-58746800	Strong transcription	Primary hematopoietic stem cells	blood
9	chr11:58746800-58749400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:58748000-58748400	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:58748200-58748400	Enhancers	Primary B cells from cord blood	blood
12	chr11:58754000-58765800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:58754800-58761600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:58756600-58757200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr11:58756800-58757400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:58756800-58757600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:58757000-58757200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:58757200-58757400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:58757200-58757400	Enhancers	Esophagus	oesophagus
20	chr11:58757200-58759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:58757400-58766600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:58757600-58760000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:58758600-58766400	Weak transcription	Primary B cells from cord blood	blood

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