Variant report

Variant	esv18778
Chromosome Location	chr11:23749542-23753466
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	chr11:23749404-23749739	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:23752440-23752590	GM12865	blood:	n/a	chr11:23752498-23752516 chr11:23752501-23752510 chr11:23752500-23752521
3	EP300	chr11:23749413-23749742	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749582-23749591 chr11:23749685-23749699
4	EP300	chr11:23749392-23749880	ECC-1	luminal epithelium:	n/a	chr11:23749759-23749769 chr11:23749583-23749592 chr11:23749582-23749591 chr11:23749685-23749699
5	FOS	chr11:23749403-23749756	MCF10A-Er-Src	breast:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
6	FOS	chr11:23749400-23749744	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
7	FOS	chr11:23749438-23749690	MCF10A-Er-Src	breast:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591
8	FOS	chr11:23749395-23749675	HUVEC	blood vessel:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591
9	FOS	chr11:23749399-23749766	MCF10A-Er-Src	breast:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
10	FOS	chr11:23749407-23749740	MCF10A-Er-Src	breast:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
11	FOXA1	chr11:23751774-23752080	T-47D	breast:	n/a	n/a
12	FOXA1	chr11:23751725-23752104	T-47D	breast:	n/a	n/a
13	JUN	chr11:23749399-23749756	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
14	JUND	chr11:23749391-23749765	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
15	JUND	chr11:23749502-23749747	H1-hESC	embryonic stem cell:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
16	POLR2A	chr11:23749557-23749577	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr11:23749405-23749731	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr11:23749398-23749740	Hela-S3	cervix:	n/a	n/a
19	RFX5	chr11:23749401-23749882	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr11:23750406-23750423	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:23749350-23749785	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749582-23749591
22	TEAD4	chr11:23749326-23749789	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr11:23749332-23749799	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:23751628-23751678	HCT-116	colon:	n/a
2	chr11:23752222-23752272	U87	brain:	n/a
3	chr11:23752001-23752051	HUVEC	blood vessel:	n/a
4	chr11:23751628-23751678	HCPEpiC	choroid plexus:	n/a
5	chr11:23752001-23752051	HL-60	blood:	n/a
6	chr11:23751628-23751678	NT2-D1	testis:	n/a
7	chr11:23751628-23751678	Hela-S3	cervix:	n/a
8	chr11:23752469-23752519	HL-60	blood:	n/a
9	chr11:23752360-23752410	HRCEpiC	kidney:	n/a
10	chr11:23752360-23752410	GM12878	blood:	n/a
11	chr11:23751628-23751678	MCF-7	breast:	n/a
12	chr11:23752222-23752272	AG09319	gingival:	n/a
13	chr11:23751628-23751678	HEEpiC	esophagus:	n/a
14	chr11:23752469-23752519	AG04449	skin:	fetal
15	chr11:23752222-23752272	RPTEC	kidney:	n/a
16	chr11:23752222-23752272	Hepatocyte	liver:	n/a
17	chr11:23752138-23752188	AG04450	lung:	fetal
18	chr11:23752138-23752188	HEEpiC	esophagus:	n/a
19	chr11:23751628-23751678	SKMC	muscle:	n/a
20	chr11:23752360-23752410	PANC-1	pancreas:	n/a
21	chr11:23752001-23752051	HepG2	liver:	n/a
22	chr11:23751628-23751678	SAEC	small airway:	n/a
23	chr11:23752360-23752410	ECC-1	luminal epithelium:	n/a
24	chr11:23752360-23752410	HUVEC	blood vessel:	n/a
25	chr11:23751628-23751678	HAEpiC	amniotic membrane:	n/a
26	chr11:23751628-23751678	MCF10A-Er-Src	breast:	n/a
27	chr11:23752360-23752410	GM06990	blood:	n/a
28	chr11:23752222-23752272	HIPEpiC	eye:	n/a
29	chr11:23752360-23752410	AG09309	skin:	n/a
30	chr11:23752360-23752410	SAEC	small airway:	n/a
31	chr11:23752138-23752188	NB4	blood:	n/a
32	chr11:23752469-23752519	HRE	kidney:	n/a
33	chr11:23752222-23752272	PrEC	prostate:	n/a
34	chr11:23752222-23752272	HNPCEpiC	eye:	n/a
35	chr11:23752001-23752051	ovcar-3	ovarian:	n/a
36	chr11:23752469-23752519	AG09309	skin:	n/a
37	chr11:23752360-23752410	CMK	blood:	n/a
38	chr11:23752138-23752188	MCF-7	breast:	n/a
39	chr11:23752001-23752051	AG04450	lung:	fetal
40	chr11:23752360-23752410	NH-A	brain:	n/a
41	chr11:23751628-23751678	NH-A	brain:	n/a
42	chr11:23752001-23752051	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:23752138-23752188	GM06990	blood:	n/a
44	chr11:23752360-23752410	Caco-2	colon:	n/a
45	chr11:23752222-23752272	K562	blood:	n/a
46	chr11:23752360-23752410	NB4	blood:	n/a
47	chr11:23752001-23752051	Hepatocyte	liver:	n/a
48	chr11:23752469-23752519	HRPEpiC	eye:	n/a
49	chr11:23752001-23752051	GM12892	blood:	n/a
50	chr11:23751628-23751678	ECC-1	luminal epithelium:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LUZP2-1	chr11:23752134-23752432	ENSG00000255193
2	lnc-LUZP2-1	chr11:23753146-23753224	NONHSAT018426
3	lnc-LUZP2-1	chr11:23753146-23753204	ENSG00000255193
4	lnc-LUZP2-1	chr11:23751855-23752432	NONHSAT018426

Variant related genes	Relation type
ENSG00000255193	TF binding region
ENSG00000255193	CpG island

Extended variants
information (count: 150 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79162487	chr11:23749561-23749562	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150359065	chr11:23749622-23749623	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549684954	chr11:23749623-23749624	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566293431	chr11:23749675-23749676	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534880817	chr11:23749677-23749678	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138022963	chr11:23749706-23749707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372859676	chr11:23749732-23749733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368947628	chr11:23749756-23749757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111267669	chr11:23749792-23749793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181383352	chr11:23749797-23749798	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185820923	chr11:23749798-23749799	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556564731	chr11:23749813-23749814	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376949703	chr11:23749825-23749826	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573284945	chr11:23749836-23749837	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375982242	chr11:23749840-23749841	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548296979	chr11:23749842-23749843	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536156570	chr11:23749844-23749845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs10741996	chr11:23749949-23749950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116093931	chr11:23749969-23749970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556583940	chr11:23750001-23750002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544836788	chr11:23750072-23750073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372831785	chr11:23750077-23750078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565082576	chr11:23750200-23750201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552429045	chr11:23750202-23750203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10661501	chr11:23750232-23750233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372448477	chr11:23750233-23750234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145242374	chr11:23750258-23750259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71311288	chr11:23750268-23750269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200392078	chr11:23750291-23750292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578071541	chr11:23750354-23750355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34383366	chr11:23750408-23750409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543877313	chr11:23750423-23750424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7934199	chr11:23750437-23750438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529273407	chr11:23750468-23750469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549721680	chr11:23750477-23750478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575016120	chr11:23750492-23750493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560042877	chr11:23750621-23750622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115645543	chr11:23750643-23750644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541983184	chr11:23750653-23750654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551732419	chr11:23750665-23750666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191767534	chr11:23750716-23750717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140092043	chr11:23750720-23750721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536777920	chr11:23750723-23750724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181214106	chr11:23750728-23750729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560591840	chr11:23750764-23750765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376595918	chr11:23750774-23750775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78918070	chr11:23750807-23750808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552857079	chr11:23750813-23750814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573096099	chr11:23750822-23750823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538921814	chr11:23751045-23751046	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23742000-23754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:23746800-23750200	Enhancers	HSMM	muscle
3	chr11:23748200-23750800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:23748600-23750000	Enhancers	NH-A	brain
5	chr11:23749000-23750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:23749000-23750000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:23749000-23750000	Enhancers	Hela-S3	cervix
8	chr11:23749200-23753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:23749400-23749800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:23749400-23749800	Enhancers	HSMMtube	muscle
11	chr11:23749400-23751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:23749600-23750000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:23750000-23750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:23750000-23750800	Weak transcription	NH-A	brain
15	chr11:23750200-23750600	Weak transcription	HSMM	muscle
16	chr11:23750600-23751000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:23750600-23751000	Enhancers	HSMM	muscle
18	chr11:23750800-23751000	Enhancers	NH-A	brain
19	chr11:23750800-23751200	Enhancers	Fetal Kidney	kidney
20	chr11:23751000-23752600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:23751000-23753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:23751000-23753600	Weak transcription	NH-A	brain
23	chr11:23752000-23752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:23752000-23753800	ZNF genes & repeats	Dnd41	blood
25	chr11:23752200-23754800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:23752800-23753600	Enhancers	Fetal Stomach	stomach
27	chr11:23753200-23754400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:23753200-23754400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:23753400-23754200	Enhancers	Fetal Intestine Large	intestine
30	chr11:23753400-23754200	Enhancers	Fetal Intestine Small	intestine

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