Variant report

Variant	esv3381199
Chromosome Location	chr11:59015574-59068938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:791)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:59040973-59041111	K562	blood:	n/a	n/a
2	ATF2	chr11:59026964-59027981	GM12878	blood:	n/a	n/a
3	ATF2	chr11:59034553-59035179	GM12878	blood:	n/a	n/a
4	ATF2	chr11:59040504-59041464	GM12878	blood:	n/a	n/a
5	ATF2	chr11:59027258-59027964	GM12878	blood:	n/a	n/a
6	ATF2	chr11:59051673-59052460	GM12878	blood:	n/a	n/a
7	ATF2	chr11:59051721-59052385	GM12878	blood:	n/a	n/a
8	ATF2	chr11:59040725-59041476	GM12878	blood:	n/a	n/a
9	ATF2	chr11:59034544-59035104	GM12878	blood:	n/a	n/a
10	BATF	chr11:59027333-59027902	GM12878	blood:	n/a	chr11:59027461-59027471 chr11:59027596-59027604
11	BATF	chr11:59027365-59027874	GM12878	blood:	n/a	chr11:59027461-59027471 chr11:59027596-59027604
12	BATF	chr11:59040862-59041178	GM12878	blood:	n/a	n/a
13	BATF	chr11:59040781-59041398	GM12878	blood:	n/a	n/a
14	BATF	chr11:59027049-59027304	GM12878	blood:	n/a	n/a
15	BATF	chr11:59034600-59035093	GM12878	blood:	n/a	n/a
16	BATF	chr11:59051747-59052352	GM12878	blood:	n/a	n/a
17	BATF	chr11:59034671-59035066	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:59051822-59052117	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:59034625-59035073	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:59027359-59027832	GM12878	blood:	n/a	chr11:59027372-59027381
21	BCL11A	chr11:59040773-59041283	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:59040876-59041255	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:59051702-59052336	GM12878	blood:	n/a	n/a
24	BCL3	chr11:59027441-59027879	GM12878	blood:	n/a	n/a
25	BCL3	chr11:59034749-59035148	GM12878	blood:	n/a	n/a
26	BCLAF1	chr11:59027494-59027869	GM12878	blood:	n/a	n/a
27	BCLAF1	chr11:59051782-59052436	GM12878	blood:	n/a	n/a
28	BCLAF1	chr11:59051846-59052479	GM12878	blood:	n/a	n/a
29	BCLAF1	chr11:59040788-59041378	GM12878	blood:	n/a	n/a
30	BCLAF1	chr11:59034616-59035170	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:59040375-59041367	GM12878	blood:	n/a	n/a
32	BHLHE40	chr11:59034767-59035074	GM12878	blood:	n/a	n/a
33	BHLHE40	chr11:59051705-59052380	GM12878	blood:	n/a	n/a
34	BRCA1	chr11:59029503-59029517	GM12878	blood:	n/a	n/a
35	BRCA1	chr11:59056771-59056775	GM12878	blood:	n/a	n/a
36	BRCA1	chr11:59014905-59015725	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr11:59034635-59035154	GM12878	blood:	n/a	n/a
38	CEBPB	chr11:59017031-59017393	HepG2	liver:	n/a	n/a
39	CEBPB	chr11:59017036-59017352	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr11:59051642-59052529	GM12878	blood:	n/a	n/a
41	CEBPB	chr11:59040671-59041479	GM12878	blood:	n/a	n/a
42	CEBPB	chr11:59014660-59015761	Hela-S3	cervix:	n/a	chr11:59015158-59015171
43	CEBPB	chr11:59017029-59017390	A549	lung:	n/a	n/a
44	CEBPB	chr11:59052092-59052451	GM12878	blood:	n/a	n/a
45	CEBPB	chr11:59017057-59017370	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr11:59017027-59017398	IMR90	lung:	n/a	n/a
47	CEBPB	chr11:59016114-59016425	Hela-S3	cervix:	n/a	chr11:59016263-59016274
48	CHD2	chr11:59015054-59015743	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr11:59040639-59041437	GM12878	blood:	n/a	n/a
50	CHD2	chr11:59051435-59052426	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59015910..59019299-chr11:59020414..59023026,3	K562	blood:
2	chr11:59020470..59022310-chr11:59023811..59025321,2	K562	blood:
3	chr11:59032632..59035314-chr11:59038415..59042026,3	MCF-7	breast:
4	chr11:58938664..58939165-chr11:59051489..59052229,2	K562	blood:
5	chr11:59030502..59031404-chr11:59051922..59052691,3	MCF-7	breast:
6	chr11:59022960..59025371-chr11:59027303..59028814,2	K562	blood:
7	chr11:59032632..59035314-chr11:59038415..59042026,3	MCF-7	breast:
8	chr11:59022960..59025371-chr11:59027303..59028814,2	K562	blood:
9	chr11:59020470..59022310-chr11:59023811..59025321,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPEG1-1	chr11:59036349-59039081	ENSG00000214797
2	lnc-MPEG1-7	chr11:59058526-59058806	NONHSAT021521
3	lnc-MPEG1-1	chr11:59051435-59051506	ENSG00000214797

No data

Variant related genes	Relation type
SLC25A47P1	TF binding region
ENSG00000254704	TF binding region
ENSG00000225802	TF binding region
RN7SL435P	TF binding region
ENSG00000214797	TF binding region
ENSG00000110042	chromatin interactions
ENSG00000254799	chromatin interactions
ENSG00000225802	chromatin interactions
RBL2	miRNA target sites
GATA6	miRNA target sites

Extended variants
information (count: 2108 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2108 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553640206	chr11:59015579-59015580	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143687028	chr11:59015605-59015606	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146831139	chr11:59015639-59015640	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9988847	chr11:59015648-59015649	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190724079	chr11:59015702-59015703	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115352085	chr11:59015711-59015712	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140854648	chr11:59015762-59015763	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144227651	chr11:59015770-59015771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576653758	chr11:59015781-59015782	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71454375	chr11:59015791-59015792	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78849827	chr11:59015792-59015793	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35416756	chr11:59015797-59015798	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543832687	chr11:59015800-59015801	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548832710	chr11:59015802-59015803	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397763418	chr11:59015803-59015804	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367624137	chr11:59015813-59015814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576797966	chr11:59015938-59015939	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530809310	chr11:59015966-59015967	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544617273	chr11:59015977-59015978	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183264451	chr11:59016028-59016029	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145390362	chr11:59016029-59016030	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559378343	chr11:59016055-59016056	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371309098	chr11:59016065-59016066	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561633298	chr11:59016115-59016116	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548078224	chr11:59016119-59016120	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563636844	chr11:59016125-59016126	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74838141	chr11:59016213-59016214	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552419634	chr11:59016258-59016259	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187298629	chr11:59016308-59016309	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369174047	chr11:59016399-59016400	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373651979	chr11:59016447-59016448	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192048833	chr11:59016475-59016476	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530281071	chr11:59016502-59016503	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568160056	chr11:59016589-59016590	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10896953	chr11:59016591-59016592	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs554847282	chr11:59016610-59016611	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570352751	chr11:59016672-59016673	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537363827	chr11:59016727-59016728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567040058	chr11:59016736-59016737	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76628597	chr11:59016794-59016795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576835326	chr11:59016795-59016796	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540979292	chr11:59016883-59016884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577471009	chr11:59016890-59016891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574578490	chr11:59016899-59016900	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6591516	chr11:59016929-59016930	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149224857	chr11:59016930-59016931	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11229888	chr11:59016959-59016960	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201452263	chr11:59016983-59016984	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371482571	chr11:59016994-59016995	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545790551	chr11:59017008-59017009	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59012200-59019200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:59013200-59017000	Enhancers	Primary B cells from cord blood	blood
3	chr11:59013200-59017400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:59013400-59016600	Enhancers	Hela-S3	cervix
5	chr11:59014000-59016200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:59014200-59015600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:59014200-59015800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:59014200-59016400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:59014200-59016600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:59014400-59015600	Enhancers	Right Atrium	heart
11	chr11:59014400-59015800	Enhancers	HMEC	breast
12	chr11:59014400-59016000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:59014400-59016400	Enhancers	Primary T cells from cord blood	blood
14	chr11:59014400-59016400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:59014400-59016600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:59014600-59015600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:59014600-59015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:59014600-59015800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:59014800-59016000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:59014800-59016400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:59015000-59015600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:59015000-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:59015000-59016200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:59015000-59016400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:59015200-59015600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:59015200-59016000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:59015200-59016000	Weak transcription	NHLF	lung
28	chr11:59015200-59016600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr11:59015200-59016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:59015400-59015600	Enhancers	Lung	lung
31	chr11:59015400-59015600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:59015400-59016000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:59015400-59016000	Enhancers	Placenta	Placenta
34	chr11:59015600-59016000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:59015600-59016200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:59015600-59016400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:59015600-59016400	Weak transcription	Right Atrium	heart
38	chr11:59015600-59025000	Weak transcription	Lung	lung
39	chr11:59016000-59016200	Enhancers	NHLF	lung
40	chr11:59016000-59016400	Weak transcription	Placenta	Placenta
41	chr11:59016000-59016400	Enhancers	Spleen	Spleen
42	chr11:59016200-59016400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:59016400-59016600	Enhancers	Placenta	Placenta
44	chr11:59016400-59016600	Enhancers	Right Atrium	heart
45	chr11:59016600-59018400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:59016600-59022800	Weak transcription	Placenta	Placenta
47	chr11:59017000-59021400	Weak transcription	Primary B cells from cord blood	blood
48	chr11:59017200-59017400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:59017400-59019200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:59018400-59020600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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