Variant report

Variant	esv3334850
Chromosome Location	chr11:18974108-18989941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:18985505-18985506	K562	blood:	n/a	n/a
2	CEBPB	chr11:18977944-18978151	A549	lung:	n/a	n/a
3	CHD2	chr11:18980168-18980255	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:18980237-18980329	A549	lung:	n/a	n/a
5	CTCF	chr11:18980230-18980320	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:18980230-18980333	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:18980237-18980331	GM19240	blood:	n/a	n/a
8	CTCF	chr11:18980239-18980330	K562	blood:	n/a	n/a
9	CTCF	chr11:18980222-18980312	ProgFib	skin:	n/a	n/a
10	CTCF	chr11:18980259-18980264	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:18980226-18980331	GM12892	blood:	n/a	n/a
12	CTCF	chr11:18980240-18980312	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:18980266-18980292	Fibrobl	skin:	n/a	n/a
14	CTCF	chr11:18980265-18980298	NHEK	skin:	n/a	n/a
15	CTCF	chr11:18980219-18980331	GM19239	blood:	n/a	n/a
16	CTCF	chr11:18980221-18980332	Gliobla	brain:	n/a	n/a
17	CTCF	chr11:18980224-18980331	GM19238	blood:	n/a	n/a
18	CTCF	chr11:18980222-18980331	GM12891	blood:	n/a	n/a
19	CTCF	chr11:18989550-18989639	GM20000	blood:	n/a	n/a
20	CTCF	chr11:18980233-18980333	HepG2	liver:	n/a	n/a
21	E2F4	chr11:18986196-18986375	MCF10A-Er-Src	breast:	n/a	n/a
22	EGR1	chr11:18978084-18978269	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
23	EGR1	chr11:18978030-18978291	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
24	FOS	chr11:18974670-18974809	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:18974580-18974780	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:18974664-18974881	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA3	chr11:18981100-18981298	SH-SY5Y	brain:	n/a	n/a
28	MAFK	chr11:18986291-18986350	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAFK	chr11:18985121-18985260	HepG2	liver:	n/a	n/a
30	MAFK	chr11:18981378-18981467	HepG2	liver:	n/a	n/a
31	MAFK	chr11:18981296-18981506	HepG2	liver:	n/a	n/a
32	MAX	chr11:18976979-18976990	NB4	blood:	n/a	n/a
33	MYC	chr11:18986312-18986489	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr11:18988153-18988230	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:18976074-18976153	Gliobla	brain:	n/a	n/a
36	POLR2A	chr11:18980107-18980595	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:18980245-18980302	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:18983140-18983207	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:18980950-18981058	GM12878	blood:	n/a	n/a
40	RCOR1	chr11:18978171-18978455	K562	blood:	n/a	n/a
41	SP1	chr11:18979974-18980395	H1-hESC	embryonic stem cell:	n/a	n/a
42	SPI1	chr11:18978197-18978498	K562	blood:	n/a	chr11:18978334-18978347 chr11:18978337-18978346 chr11:18978335-18978348 chr11:18978338-18978345 chr11:18978334-18978347
43	SPI1	chr11:18978181-18978437	K562	blood:	n/a	chr11:18978334-18978347 chr11:18978337-18978346 chr11:18978335-18978348 chr11:18978338-18978345 chr11:18978334-18978347
44	STAT3	chr11:18975681-18975706	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr11:18980074-18980368	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr11:18979944-18980437	H1-hESC	embryonic stem cell:	n/a	n/a
47	TEAD4	chr11:18980071-18980437	ECC-1	luminal epithelium:	n/a	n/a
48	TEAD4	chr11:18979945-18980539	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr11:18980095-18980420	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18978157-18978207	NB4	blood:	n/a
2	chr11:18978218-18978268	AG10803	skin:	n/a
3	chr11:18978391-18978441	HMEC	breast:	n/a
4	chr11:18978391-18978441	AG09309	skin:	n/a
5	chr11:18978157-18978207	HL-60	blood:	n/a
6	chr11:18978157-18978207	AG04450	lung:	fetal
7	chr11:18978391-18978441	HAEpiC	amniotic membrane:	n/a
8	chr11:18978169-18978219	MCF10A-Er-Src	breast:	n/a
9	chr11:18978391-18978441	AoSMC	blood vessel:	n/a
10	chr11:18978391-18978441	IMR90	lung:	fetal
11	chr11:18978169-18978219	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:18978391-18978441	GM06990	blood:	n/a
13	chr11:18978157-18978207	NT2-D1	testis:	n/a
14	chr11:18978218-18978268	MCF10A-Er-Src	breast:	n/a
15	chr11:18978218-18978268	SK-N-SH	brain:	n/a
16	chr11:18978169-18978219	GM12878	blood:	n/a
17	chr11:18978157-18978207	BE2_C	brain:	n/a
18	chr11:18978391-18978441	HRCEpiC	kidney:	n/a
19	chr11:18978169-18978219	SK-N-SH_RA	brain:	n/a
20	chr11:18978169-18978219	HCPEpiC	choroid plexus:	n/a
21	chr11:18978157-18978207	HRPEpiC	eye:	n/a
22	chr11:18978157-18978207	ovcar-3	ovarian:	n/a
23	chr11:18978218-18978268	HEK293	kidney:	embryo
24	chr11:18978157-18978207	PrEC	prostate:	n/a
25	chr11:18978169-18978219	PrEC	prostate:	n/a
26	chr11:18978169-18978219	Hela-S3	cervix:	n/a
27	chr11:18978218-18978268	Hela-S3	cervix:	n/a
28	chr11:18978218-18978268	AoSMC	blood vessel:	n/a
29	chr11:18978169-18978219	NB4	blood:	n/a
30	chr11:18978157-18978207	K562	blood:	n/a
31	chr11:18978391-18978441	HCM	heart:	n/a
32	chr11:18978157-18978207	AG04449	skin:	fetal
33	chr11:18978157-18978207	CMK	blood:	n/a
34	chr11:18978391-18978441	SK-N-SH_RA	brain:	n/a
35	chr11:18978157-18978207	GM06990	blood:	n/a
36	chr11:18978157-18978207	HMEC	breast:	n/a
37	chr11:18978391-18978441	HCF	heart:	n/a
38	chr11:18978218-18978268	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:18978157-18978207	AG10803	skin:	n/a
40	chr11:18978157-18978207	HepG2	liver:	n/a
41	chr11:18978169-18978219	IMR90	lung:	fetal
42	chr11:18978218-18978268	PFSK-1	brain:	n/a
43	chr11:18978169-18978219	HRCEpiC	kidney:	n/a
44	chr11:18978391-18978441	GM12878	blood:	n/a
45	chr11:18978218-18978268	HEEpiC	esophagus:	n/a
46	chr11:18978218-18978268	HRE	kidney:	n/a
47	chr11:18978218-18978268	GM12891	blood:	n/a
48	chr11:18978218-18978268	NHBE	bronchial:	n/a
49	chr11:18978218-18978268	HNPCEpiC	eye:	n/a
50	chr11:18978391-18978441	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000254738	TF binding region
ENSG00000254738	CpG island

Extended variants
information (count: 524 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139435341	chr11:18974421-18974422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537265182	chr11:18974472-18974473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76209036	chr11:18974498-18974499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546666231	chr11:18974524-18974525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549426338	chr11:18974534-18974535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187807891	chr11:18974570-18974571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371429542	chr11:18974596-18974597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538762721	chr11:18974645-18974646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556890613	chr11:18974670-18974671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192936559	chr11:18974672-18974673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184945940	chr11:18974686-18974687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12272200	chr11:18974703-18974704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567809537	chr11:18974775-18974776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188654411	chr11:18974802-18974803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540470208	chr11:18974844-18974845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1842921	chr11:18974860-18974861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs150056429	chr11:18974899-18974900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7122804	chr11:18974907-18974908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192219636	chr11:18974937-18974938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368852228	chr11:18974961-18974962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75640340	chr11:18974963-18974964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368070178	chr11:18974998-18974999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184651356	chr11:18975000-18975001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528645018	chr11:18975007-18975008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7123184	chr11:18975079-18975080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571528483	chr11:18975103-18975104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112199668	chr11:18975112-18975113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7122972	chr11:18975126-18975127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551095517	chr11:18975183-18975184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569156617	chr11:18975196-18975197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7123103	chr11:18975198-18975199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7123440	chr11:18975222-18975223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543643861	chr11:18975244-18975245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148761373	chr11:18975247-18975248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189386551	chr11:18975261-18975262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7123138	chr11:18975292-18975293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574174133	chr11:18975306-18975307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56167540	chr11:18975310-18975311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577117476	chr11:18975340-18975341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537927342	chr11:18975351-18975352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556269702	chr11:18975387-18975388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144043670	chr11:18975440-18975441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7123386	chr11:18975452-18975453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559907459	chr11:18975453-18975454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7123501	chr11:18975469-18975470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7123502	chr11:18975473-18975474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533196695	chr11:18975527-18975528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565128265	chr11:18975538-18975539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532615658	chr11:18975594-18975595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550777075	chr11:18975624-18975625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18974400-18974800	Enhancers	NHEK	skin
2	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:18974800-18979400	Weak transcription	NHEK	skin
5	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:18978600-18979000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:18979000-18979400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:18979400-18979600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:18979400-18980000	Enhancers	NHEK	skin
10	chr11:18979400-18980800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:18979400-18981000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:18979400-18981000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:18979400-18981200	Enhancers	HMEC	breast
14	chr11:18979400-18981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:18979600-18980800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:18979600-18981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:18979800-18980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:18979800-18980600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:18979800-18981000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:18979800-18981000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:18980000-18980400	Flanking Active TSS	NHEK	skin
22	chr11:18980400-18981400	Enhancers	NHEK	skin
23	chr11:18980600-18981000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr11:18980800-18981200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr11:18984800-18993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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