Variant report

Variant	esv3407952
Chromosome Location	chr11:59029926-59032724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:59030900-59031050	A549	lung:	n/a	n/a
2	CTCF	chr11:59030840-59030990	SAEC	small airway:	n/a	n/a
3	CTCF	chr11:59030860-59031010	HCT-116	colon:	n/a	n/a
4	CTCF	chr11:59030840-59030990	GM12873	blood:	n/a	n/a
5	CTCF	chr11:59030796-59030996	GM20000	blood:	n/a	n/a
6	CTCF	chr11:59030800-59030950	K562	blood:	n/a	n/a
7	CTCF	chr11:59030790-59030959	Fibrobl	skin:	n/a	n/a
8	CTCF	chr11:59030860-59031010	GM12801	blood:	n/a	n/a
9	CTCF	chr11:59030770-59031024	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr11:59030840-59030990	HCT-116	colon:	n/a	n/a
11	CTCF	chr11:59030772-59031040	GM19238	blood:	n/a	n/a
12	CTCF	chr11:59030648-59031137	HCT-116	colon:	n/a	chr11:59030707-59030720
13	CTCF	chr11:59030860-59031010	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:59031181-59031241	GM19239	blood:	n/a	n/a
15	CTCF	chr11:59030800-59030950	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:59030836-59030966	Lung_OC	lung:	n/a	n/a
17	CTCF	chr11:59031140-59031290	HCT-116	colon:	n/a	n/a
18	CTCF	chr11:59030820-59030970	GM12873	blood:	n/a	n/a
19	CTCF	chr11:59030837-59031005	K562	blood:	n/a	n/a
20	CTCF	chr11:59030880-59031030	GM12868	blood:	n/a	n/a
21	CTCF	chr11:59030840-59030990	HepG2	liver:	n/a	n/a
22	CTCF	chr11:59030820-59030970	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr11:59030780-59030930	GM12878	blood:	n/a	n/a
24	CTCF	chr11:59030771-59031032	GM12878	blood:	n/a	n/a
25	CTCF	chr11:59030880-59031030	RPTEC	kidney:	n/a	n/a
26	CTCF	chr11:59030760-59031035	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:59030800-59030950	GM12866	blood:	n/a	n/a
28	CTCF	chr11:59030500-59030650	GM12868	blood:	n/a	n/a
29	CTCF	chr11:59030840-59030990	GM12869	blood:	n/a	n/a
30	CTCF	chr11:59030818-59031000	Gliobla	brain:	n/a	n/a
31	CTCF	chr11:59030320-59030470	GM06990	blood:	n/a	n/a
32	CTCF	chr11:59030747-59031028	GM19240	blood:	n/a	n/a
33	CTCF	chr11:59030843-59030977	A549	lung:	n/a	n/a
34	CTCF	chr11:59031210-59031255	GM12891	blood:	n/a	n/a
35	CTCF	chr11:59030820-59030970	GM12867	blood:	n/a	n/a
36	CTCF	chr11:59030780-59030930	GM12865	blood:	n/a	n/a
37	CTCF	chr11:59030800-59030950	GM12871	blood:	n/a	n/a
38	CTCF	chr11:59030726-59031028	K562	blood:	n/a	n/a
39	CTCF	chr11:59030700-59030850	GM12870	blood:	n/a	chr11:59030707-59030720
40	CTCF	chr11:59030820-59030970	GM12878	blood:	n/a	n/a
41	CTCF	chr11:59030763-59031053	K562	blood:	n/a	n/a
42	CTCF	chr11:59030846-59030956	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr11:59030840-59030990	GM12875	blood:	n/a	n/a
44	CTCF	chr11:59030880-59031030	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr11:59030575-59030619	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr11:59030840-59030990	NHEK	skin:	n/a	n/a
47	CTCF	chr11:59030758-59031092	T-47D	breast:	n/a	n/a
48	CTCF	chr11:59030500-59030650	GM12870	blood:	n/a	n/a
49	CTCF	chr11:59030840-59030990	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr11:59030798-59031008	GM13977	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59032632..59035314-chr11:59038415..59042026,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC25A47P1	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139068979	chr11:59029929-59029930	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181669341	chr11:59029933-59029934	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552522527	chr11:59029934-59029935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570729343	chr11:59030027-59030028	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535135048	chr11:59030091-59030092	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144005943	chr11:59030095-59030096	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568291355	chr11:59030112-59030113	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80057111	chr11:59030174-59030175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557324887	chr11:59030194-59030195	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146506082	chr11:59030232-59030233	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546088973	chr11:59030235-59030236	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140894890	chr11:59030265-59030266	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs3944255	chr11:59030285-59030286	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs370823047	chr11:59030338-59030339	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35439053	chr11:59030368-59030369	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372943662	chr11:59030369-59030370	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs397849260	chr11:59030370-59030371	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185482484	chr11:59030395-59030396	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556718426	chr11:59030417-59030418	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs10896957	chr11:59030490-59030491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs149706800	chr11:59030687-59030688	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs563668641	chr11:59030698-59030699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs189293670	chr11:59030707-59030708	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs181909538	chr11:59030770-59030771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs184903493	chr11:59030772-59030773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs189801071	chr11:59030856-59030857	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528471805	chr11:59030886-59030887	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143934063	chr11:59030951-59030952	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547111265	chr11:59030982-59030983	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141508873	chr11:59030990-59030991	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568550186	chr11:59030997-59030998	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112520141	chr11:59031017-59031018	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145569212	chr11:59031032-59031033	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539726769	chr11:59031091-59031092	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557723349	chr11:59031159-59031160	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139835143	chr11:59031169-59031170	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7113607	chr11:59031170-59031171	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs148887217	chr11:59031182-59031183	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555474873	chr11:59031218-59031219	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573380492	chr11:59031233-59031234	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115587550	chr11:59031259-59031260	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7129362	chr11:59031289-59031290	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs575392719	chr11:59031323-59031324	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546522592	chr11:59031343-59031344	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs533296095	chr11:59031366-59031367	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528520557	chr11:59031375-59031376	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs116169077	chr11:59031380-59031381	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181155565	chr11:59031381-59031382	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529420440	chr11:59031398-59031399	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs551052030	chr11:59031427-59031428	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59024200-59030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:59024200-59030800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:59028000-59030000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:59028200-59030000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:59028200-59034000	Weak transcription	GM12878-XiMat	blood
6	chr11:59028400-59030000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:59028800-59030400	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:59029000-59030200	Enhancers	Fetal Muscle Leg	muscle
9	chr11:59029800-59030400	Active TSS	Spleen	Spleen
10	chr11:59029800-59039000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:59029800-59040400	Enhancers	Primary B cells from cord blood	blood
12	chr11:59030000-59031200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:59030000-59031600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr11:59030000-59035400	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:59030200-59030400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:59030400-59030600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:59030400-59031600	Enhancers	Spleen	Spleen
18	chr11:59030600-59030800	Bivalent Enhancer	Placenta	Placenta
19	chr11:59030800-59031000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:59030800-59031400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:59030800-59031600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:59030800-59031600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:59031000-59031400	Enhancers	Colonic Mucosa	Colon
24	chr11:59031000-59031400	Enhancers	Pancreas	Pancrea
25	chr11:59031000-59031600	Enhancers	Liver	Liver
26	chr11:59031000-59031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:59031000-59031800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:59031200-59035400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:59031400-59039000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:59031600-59032000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:59031600-59032400	Weak transcription	Spleen	Spleen
32	chr11:59031600-59032800	Weak transcription	Liver	Liver
33	chr11:59031600-59033800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:59031600-59035000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:59031800-59032200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:59031800-59033000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:59031800-59036800	Enhancers	Placenta	Placenta
38	chr11:59032000-59032200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:59032000-59032800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:59032000-59036200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:59032200-59032400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:59032200-59034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:59032200-59036000	Enhancers	HMEC	breast
44	chr11:59032200-59036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:59032400-59032600	Enhancers	Spleen	Spleen
46	chr11:59032400-59033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:59032400-59036000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:59032600-59039200	Weak transcription	Spleen	Spleen

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