Variant report

Variant	esv3474007
Chromosome Location	chr11:23750176-23755774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:23752440-23752590	GM12865	blood:	n/a	chr11:23752498-23752516 chr11:23752501-23752510 chr11:23752500-23752521
2	CTCF	chr11:23754060-23754210	HepG2	liver:	n/a	n/a
3	FOXA1	chr11:23751725-23752104	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:23751774-23752080	T-47D	breast:	n/a	n/a
5	MAFF	chr11:23753643-23753863	HepG2	liver:	n/a	n/a
6	MAFK	chr11:23753618-23753993	IMR90	lung:	n/a	chr11:23753784-23753799
7	MAFK	chr11:23753723-23753923	HepG2	liver:	n/a	chr11:23753784-23753799
8	POLR2A	chr11:23753832-23753973	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr11:23754002-23754255	HepG2	liver:	n/a	n/a
10	STAT3	chr11:23750406-23750423	MCF10A-Er-Src	breast:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:23752138-23752188	H1-hESC	embryonic stem cell:	embryo
2	chr11:23752138-23752188	H1-hESC	embryonic stem cell:	embryo
3	chr11:23752222-23752272	GM06990	blood:	n/a
4	chr11:23752138-23752188	BE2_C	brain:	n/a
5	chr11:23752222-23752272	MCF-7	breast:	n/a
6	chr11:23752469-23752519	MCF10A-Er-Src	breast:	n/a
7	chr11:23752138-23752188	ProgFib	skin:	n/a
8	chr11:23752469-23752519	NB4	blood:	n/a
9	chr11:23752138-23752188	SK-N-SH_RA	brain:	n/a
10	chr11:23752222-23752272	AG09319	gingival:	n/a
11	chr11:23752138-23752188	U87	brain:	n/a
12	chr11:23754485-23754535	ECC-1	luminal epithelium:	n/a
13	chr11:23752222-23752272	NHBE	bronchial:	n/a
14	chr11:23752469-23752519	IMR90	lung:	fetal
15	chr11:23754485-23754535	GM06990	blood:	n/a
16	chr11:23752222-23752272	RPTEC	kidney:	n/a
17	chr11:23752360-23752410	BE2_C	brain:	n/a
18	chr11:23752001-23752051	GM12878	blood:	n/a
19	chr11:23751628-23751678	CMK	blood:	n/a
20	chr11:23751628-23751678	AG04450	lung:	fetal
21	chr11:23751628-23751678	Hepatocyte	liver:	n/a
22	chr11:23752469-23752519	HRE	kidney:	n/a
23	chr11:23754485-23754535	IMR90	lung:	fetal
24	chr11:23752138-23752188	SK-N-MC	brain:	n/a
25	chr11:23754485-23754535	GM12878	blood:	n/a
26	chr11:23752360-23752410	GM12892	blood:	n/a
27	chr11:23752138-23752188	BJ	skin:	n/a
28	chr11:23752001-23752051	NT2-D1	testis:	n/a
29	chr11:23752138-23752188	IMR90	lung:	fetal
30	chr11:23752360-23752410	HEEpiC	esophagus:	n/a
31	chr11:23752001-23752051	HL-60	blood:	n/a
32	chr11:23752360-23752410	HRE	kidney:	n/a
33	chr11:23752360-23752410	SAEC	small airway:	n/a
34	chr11:23752138-23752188	HRE	kidney:	n/a
35	chr11:23752469-23752519	Caco-2	colon:	n/a
36	chr11:23752360-23752410	BJ	skin:	n/a
37	chr11:23752138-23752188	GM19239	blood:	n/a
38	chr11:23752001-23752051	PrEC	prostate:	n/a
39	chr11:23752222-23752272	PFSK-1	brain:	n/a
40	chr11:23752360-23752410	GM19239	blood:	n/a
41	chr11:23752138-23752188	HepG2	liver:	n/a
42	chr11:23754485-23754535	HCPEpiC	choroid plexus:	n/a
43	chr11:23752222-23752272	NT2-D1	testis:	n/a
44	chr11:23752222-23752272	AG04450	lung:	fetal
45	chr11:23751628-23751678	AG09319	gingival:	n/a
46	chr11:23752222-23752272	NH-A	brain:	n/a
47	chr11:23752469-23752519	HL-60	blood:	n/a
48	chr11:23752138-23752188	AG09319	gingival:	n/a
49	chr11:23752360-23752410	AG09309	skin:	n/a
50	chr11:23752138-23752188	Hela-S3	cervix:	n/a

No data

(count:4 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 184 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565082576	chr11:23750200-23750201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552429045	chr11:23750202-23750203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10661501	chr11:23750232-23750233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372448477	chr11:23750233-23750234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145242374	chr11:23750258-23750259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71311288	chr11:23750268-23750269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200392078	chr11:23750291-23750292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578071541	chr11:23750354-23750355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34383366	chr11:23750408-23750409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543877313	chr11:23750423-23750424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs7934199	chr11:23750437-23750438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529273407	chr11:23750468-23750469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549721680	chr11:23750477-23750478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575016120	chr11:23750492-23750493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560042877	chr11:23750621-23750622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115645543	chr11:23750643-23750644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541983184	chr11:23750653-23750654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551732419	chr11:23750665-23750666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191767534	chr11:23750716-23750717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140092043	chr11:23750720-23750721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536777920	chr11:23750723-23750724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181214106	chr11:23750728-23750729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560591840	chr11:23750764-23750765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376595918	chr11:23750774-23750775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78918070	chr11:23750807-23750808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552857079	chr11:23750813-23750814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573096099	chr11:23750822-23750823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538921814	chr11:23751045-23751046	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528275012	chr11:23751117-23751118	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574592606	chr11:23751149-23751150	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117828439	chr11:23751157-23751158	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575383257	chr11:23751165-23751166	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112546371	chr11:23751261-23751262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190896611	chr11:23751271-23751272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574089341	chr11:23751278-23751279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111693381	chr11:23751279-23751280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35833977	chr11:23751325-23751326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148613832	chr11:23751345-23751346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11027463	chr11:23751356-23751357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs6483985	chr11:23751362-23751363	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182308308	chr11:23751367-23751368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142671053	chr11:23751369-23751370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373349616	chr11:23751371-23751372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529659445	chr11:23751373-23751374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566981934	chr11:23751406-23751407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547990362	chr11:23751423-23751424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546236865	chr11:23751437-23751438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111922899	chr11:23751496-23751497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538590994	chr11:23751504-23751505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558784076	chr11:23751512-23751513	Weak transcription ZNF genes & repeats	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:27 , 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	chr11:23749200-23753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:23749400-23751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:23750000-23750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:23750000-23750800	Weak transcription	NH-A	brain
8	chr11:23750200-23750600	Weak transcription	HSMM	muscle
9	chr11:23750600-23751000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:23750600-23751000	Enhancers	HSMM	muscle
11	chr11:23750800-23751000	Enhancers	NH-A	brain
12	chr11:23750800-23751200	Enhancers	Fetal Kidney	kidney
13	chr11:23751000-23752600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:23751000-23753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:23751000-23753600	Weak transcription	NH-A	brain
16	chr11:23752000-23752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:23752000-23753800	ZNF genes & repeats	Dnd41	blood
18	chr11:23752200-23754800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:23752800-23753600	Enhancers	Fetal Stomach	stomach
20	chr11:23753200-23754400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:23753200-23754400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:23753400-23754200	Enhancers	Fetal Intestine Large	intestine
23	chr11:23753400-23754200	Enhancers	Fetal Intestine Small	intestine
24	chr11:23753600-23753800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:23753600-23754000	Enhancers	HepG2	liver
26	chr11:23753600-23754200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:23753800-23754000	Enhancers	NH-A	brain

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