Variant report

Variant	esv3339316
Chromosome Location	chr11:23747776-23753374
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	chr11:23749392-23749880	ECC-1	luminal epithelium:	n/a	chr11:23749759-23749769 chr11:23749583-23749592 chr11:23749582-23749591 chr11:23749685-23749699
4	EP300	chr11:23749413-23749742	Hela-S3	cervix:	n/a	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	chr11:23749399-23749766	MCF10A-Er-Src	breast:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
7	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
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	chr11:23749400-23749744	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749581-23749593 chr11:23749582-23749592 chr11:23749584-23749591 chr11:23749583-23749591 chr11:23749724-23749736
10	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
11	FOXA1	chr11:23751725-23752104	T-47D	breast:	n/a	n/a
12	FOXA1	chr11:23751774-23752080	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	chr11:23749502-23749747	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
15	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
16	NFYB	chr11:23748952-23749220	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:23749557-23749577	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr11:23749405-23749731	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr11:23749398-23749740	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr11:23749401-23749882	Hela-S3	cervix:	n/a	n/a
21	STAT3	chr11:23749350-23749785	Hela-S3	cervix:	n/a	chr11:23749583-23749592 chr11:23749582-23749591
22	STAT3	chr11:23748385-23748613	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr11:23750406-23750423	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr11:23749332-23749799	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr11:23749326-23749789	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:23752138-23752188	HIPEpiC	eye:	n/a
2	chr11:23752138-23752188	HIPEpiC	eye:	n/a
3	chr11:23752001-23752051	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:23752360-23752410	HMEC	breast:	n/a
5	chr11:23752001-23752051	GM12891	blood:	n/a
6	chr11:23752469-23752519	SK-N-SH	brain:	n/a
7	chr11:23752222-23752272	HRE	kidney:	n/a
8	chr11:23752469-23752519	CMK	blood:	n/a
9	chr11:23752001-23752051	CMK	blood:	n/a
10	chr11:23752469-23752519	HCPEpiC	choroid plexus:	n/a
11	chr11:23752360-23752410	GM12891	blood:	n/a
12	chr11:23751628-23751678	SAEC	small airway:	n/a
13	chr11:23751628-23751678	AoSMC	blood vessel:	n/a
14	chr11:23751628-23751678	IMR90	lung:	fetal
15	chr11:23752222-23752272	SAEC	small airway:	n/a
16	chr11:23752001-23752051	AG04450	lung:	fetal
17	chr11:23752222-23752272	MCF-7	breast:	n/a
18	chr11:23752001-23752051	RPTEC	kidney:	n/a
19	chr11:23751628-23751678	NHBE	bronchial:	n/a
20	chr11:23752001-23752051	NHDF-neo	bronchial:	n/a
21	chr11:23752222-23752272	SK-N-MC	brain:	n/a
22	chr11:23752360-23752410	A549	lung:	n/a
23	chr11:23751628-23751678	HMEC	breast:	n/a
24	chr11:23752469-23752519	HEK293	kidney:	embryo
25	chr11:23752222-23752272	PANC-1	pancreas:	n/a
26	chr11:23752222-23752272	CMK	blood:	n/a
27	chr11:23751628-23751678	HAEpiC	amniotic membrane:	n/a
28	chr11:23752001-23752051	HCM	heart:	n/a
29	chr11:23752222-23752272	HMEC	breast:	n/a
30	chr11:23751628-23751678	HL-60	blood:	n/a
31	chr11:23752360-23752410	MCF10A-Er-Src	breast:	n/a
32	chr11:23752360-23752410	HRE	kidney:	n/a
33	chr11:23751628-23751678	NHDF-neo	bronchial:	n/a
34	chr11:23752469-23752519	AG04450	lung:	fetal
35	chr11:23752222-23752272	HEEpiC	esophagus:	n/a
36	chr11:23752222-23752272	GM06990	blood:	n/a
37	chr11:23752360-23752410	CMK	blood:	n/a
38	chr11:23752138-23752188	ECC-1	luminal epithelium:	n/a
39	chr11:23752222-23752272	HL-60	blood:	n/a
40	chr11:23752360-23752410	HRPEpiC	eye:	n/a
41	chr11:23752001-23752051	AG04449	skin:	fetal
42	chr11:23752469-23752519	RPTEC	kidney:	n/a
43	chr11:23752360-23752410	ECC-1	luminal epithelium:	n/a
44	chr11:23752222-23752272	HNPCEpiC	eye:	n/a
45	chr11:23752469-23752519	NHBE	bronchial:	n/a
46	chr11:23752469-23752519	NT2-D1	testis:	n/a
47	chr11:23752222-23752272	MCF10A-Er-Src	breast:	n/a
48	chr11:23752222-23752272	NHBE	bronchial:	n/a
49	chr11:23752222-23752272	NT2-D1	testis:	n/a
50	chr11:23752222-23752272	NB4	blood:	n/a

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

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

Extended variants
information (count: 201 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549196667	chr11:23747790-23747791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74737556	chr11:23747855-23747856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560899338	chr11:23747856-23747857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548277394	chr11:23747892-23747893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184570335	chr11:23747899-23747900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534015618	chr11:23747976-23747977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547815244	chr11:23748012-23748013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570735157	chr11:23748038-23748039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76315686	chr11:23748125-23748126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556543467	chr11:23748147-23748148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570284011	chr11:23748156-23748157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189235277	chr11:23748195-23748196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555510821	chr11:23748196-23748197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546585539	chr11:23748204-23748205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534551202	chr11:23748212-23748213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374821357	chr11:23748257-23748258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192909010	chr11:23748262-23748263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557766130	chr11:23748272-23748273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145697115	chr11:23748306-23748307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543717905	chr11:23748310-23748311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200384785	chr11:23748313-23748314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10741995	chr11:23748337-23748338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138371311	chr11:23748349-23748350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78446403	chr11:23748365-23748366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184894762	chr11:23748406-23748407	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs10767112	chr11:23748440-23748441	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374437221	chr11:23748447-23748448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547558254	chr11:23748492-23748493	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142846435	chr11:23748560-23748561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558846804	chr11:23748561-23748562	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189402852	chr11:23748605-23748606	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373488662	chr11:23748664-23748665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570325825	chr11:23748673-23748674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568645095	chr11:23748714-23748715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535920210	chr11:23748758-23748759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536147624	chr11:23748830-23748831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556044874	chr11:23748885-23748886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554619966	chr11:23748892-23748893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180938153	chr11:23748898-23748899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534753652	chr11:23748927-23748928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368755791	chr11:23748937-23748938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116497066	chr11:23749024-23749025	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373289495	chr11:23749088-23749089	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577590501	chr11:23749100-23749101	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs35020971	chr11:23749137-23749138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs543008464	chr11:23749165-23749166	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs11602457	chr11:23749172-23749173	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74448153	chr11:23749229-23749230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542489718	chr11:23749231-23749232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559156525	chr11:23749253-23749254	Weak transcription 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:38 , 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	chr11:23745600-23748600	Weak transcription	NH-A	brain
3	chr11:23746200-23749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:23746800-23750200	Enhancers	HSMM	muscle
5	chr11:23747000-23748400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:23747400-23748200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:23747400-23749400	Weak transcription	HSMMtube	muscle
8	chr11:23747600-23748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:23748200-23748400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:23748200-23750800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:23748400-23749000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:23748600-23749400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:23748600-23750000	Enhancers	NH-A	brain
14	chr11:23749000-23749200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:23749000-23750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:23749000-23750000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:23749000-23750000	Enhancers	Hela-S3	cervix
18	chr11:23749200-23753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:23749400-23749800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:23749400-23749800	Enhancers	HSMMtube	muscle
21	chr11:23749400-23751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:23749600-23750000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:23750000-23750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:23750000-23750800	Weak transcription	NH-A	brain
25	chr11:23750200-23750600	Weak transcription	HSMM	muscle
26	chr11:23750600-23751000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:23750600-23751000	Enhancers	HSMM	muscle
28	chr11:23750800-23751000	Enhancers	NH-A	brain
29	chr11:23750800-23751200	Enhancers	Fetal Kidney	kidney
30	chr11:23751000-23752600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:23751000-23753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:23751000-23753600	Weak transcription	NH-A	brain
33	chr11:23752000-23752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:23752000-23753800	ZNF genes & repeats	Dnd41	blood
35	chr11:23752200-23754800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:23752800-23753600	Enhancers	Fetal Stomach	stomach
37	chr11:23753200-23754400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:23753200-23754400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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