Variant report

Variant	esv2763049
Chromosome Location	chr13:95414554-95445266
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	chr13:95414709-95414954	IMR90	lung:	n/a	chr13:95414836-95414847
2	CEBPB	chr13:95437379-95437475	HepG2	liver:	n/a	chr13:95437391-95437402
3	CEBPB	chr13:95443540-95443651	K562	blood:	n/a	n/a
4	CEBPB	chr13:95423550-95423822	HepG2	liver:	n/a	chr13:95423710-95423721 chr13:95423711-95423722 chr13:95423710-95423723
5	CEBPB	chr13:95423653-95423775	K562	blood:	n/a	chr13:95423710-95423721 chr13:95423711-95423722 chr13:95423710-95423723
6	CEBPB	chr13:95414705-95414985	HepG2	liver:	n/a	chr13:95414836-95414847
7	CTCF	chr13:95426519-95426598	HepG2	liver:	n/a	n/a
8	CTCF	chr13:95428180-95428330	Caco-2	colon:	n/a	n/a
9	EP300	chr13:95418088-95418349	H1-hESC	embryonic stem cell:	n/a	n/a
10	FAM48A	chr13:95444302-95444401	GM12878	blood:	n/a	n/a
11	FOS	chr13:95443321-95443541	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr13:95416963-95417083	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr13:95417007-95417281	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr13:95416953-95417169	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr13:95416960-95417221	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr13:95443319-95443584	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr13:95425311-95425499	T-47D	breast:	n/a	chr13:95425431-95425446
18	FOXA1	chr13:95425237-95425646	HepG2	liver:	n/a	chr13:95425628-95425640 chr13:95425431-95425446 chr13:95425624-95425636
19	FOXA2	chr13:95425195-95425657	A549	lung:	n/a	chr13:95425628-95425640 chr13:95425624-95425636
20	FOXA2	chr13:95425326-95425579	HepG2	liver:	n/a	n/a
21	JUN	chr13:95435769-95436129	HepG2	liver:	n/a	chr13:95435943-95435956
22	JUND	chr13:95435762-95436135	HepG2	liver:	n/a	n/a
23	JUND	chr13:95417036-95417085	K562	blood:	n/a	n/a
24	KAP1	chr13:95414347-95414602	U2OS	brain:	n/a	n/a
25	MAFF	chr13:95435200-95435481	HepG2	liver:	n/a	chr13:95435337-95435355
26	MAFF	chr13:95418574-95418746	HepG2	liver:	n/a	n/a
27	MAFK	chr13:95417015-95417123	HepG2	liver:	n/a	n/a
28	MAFK	chr13:95416990-95417064	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAFK	chr13:95435203-95435503	HepG2	liver:	n/a	chr13:95435343-95435354 chr13:95435338-95435353 chr13:95435343-95435354 chr13:95435342-95435353
30	MAFK	chr13:95418529-95418827	HepG2	liver:	n/a	n/a
31	MAFK	chr13:95418593-95418772	IMR90	lung:	n/a	n/a
32	MAFK	chr13:95420236-95420312	HepG2	liver:	n/a	n/a
33	MAFK	chr13:95435331-95435466	Hela-S3	cervix:	n/a	chr13:95435343-95435354 chr13:95435338-95435353 chr13:95435343-95435354 chr13:95435342-95435353
34	MAFK	chr13:95418567-95418812	HepG2	liver:	n/a	n/a
35	MAFK	chr13:95435178-95435510	HepG2	liver:	n/a	chr13:95435343-95435354 chr13:95435338-95435353 chr13:95435343-95435354 chr13:95435342-95435353
36	MAX	chr13:95418131-95418384	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr13:95426274-95426332	GM12878	blood:	n/a	n/a
38	MYC	chr13:95421117-95421144	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr13:95419142-95419296	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:95427387-95427478	Gliobla	brain:	n/a	n/a
41	POLR2A	chr13:95429418-95429571	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:95430223-95430293	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr13:95443427-95443488	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr13:95416184-95416337	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr13:95426586-95426589	Gliobla	brain:	n/a	n/a
46	POLR2A	chr13:95435479-95435489	GM12878	blood:	n/a	n/a
47	POLR2A	chr13:95426351-95426394	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr13:95426671-95426711	Gliobla	brain:	n/a	n/a
49	SP1	chr13:95418167-95418365	H1-hESC	embryonic stem cell:	n/a	n/a
50	STAT3	chr13:95420945-95420998	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95426958..95428917-chr13:95430794..95432528,2	K562	blood:
2	chr13:95426958..95428917-chr13:95430794..95432528,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-2	chr13:95416662-95416805	NONHSAT034743
2	lnc-GPR180-2	chr13:95416662-95416805	ENSG00000250280

Variant related genes	Relation type
RPL21P112	TF binding region
BRD7P5	TF binding region
B3GNT5	miRNA target sites

Extended variants
information (count: 690 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546658365	chr13:95414564-95414565	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs374182046	chr13:95414565-95414566	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs566558624	chr13:95414624-95414625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144521454	chr13:95414627-95414628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188254742	chr13:95414657-95414658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552330343	chr13:95414663-95414664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538497396	chr13:95414730-95414731	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs118071661	chr13:95414754-95414755	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs180702883	chr13:95414834-95414835	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs568439793	chr13:95414852-95414853	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs554394593	chr13:95414909-95414910	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs792298	chr13:95414968-95414969	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370101906	chr13:95415010-95415011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536239078	chr13:95415024-95415025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553915164	chr13:95415060-95415061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs792299	chr13:95415070-95415071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573268874	chr13:95415149-95415150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545206814	chr13:95415157-95415158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565395467	chr13:95415175-95415176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575880614	chr13:95415184-95415185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148115362	chr13:95415204-95415205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186362752	chr13:95415228-95415229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530464433	chr13:95415258-95415259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9561684	chr13:95415285-95415286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546597319	chr13:95415310-95415311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189743980	chr13:95415343-95415344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532146757	chr13:95415345-95415346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74104395	chr13:95415355-95415356	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568935478	chr13:95415369-95415370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181793172	chr13:95415388-95415389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548024041	chr13:95415418-95415419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9590076	chr13:95415426-95415427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17196401	chr13:95415535-95415536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553316728	chr13:95415540-95415541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34633916	chr13:95415550-95415551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573120896	chr13:95415555-95415556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539046615	chr13:95415589-95415590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558735760	chr13:95415636-95415637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575846568	chr13:95415680-95415681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373940411	chr13:95415688-95415689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561493900	chr13:95415700-95415701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186913190	chr13:95415786-95415787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78931771	chr13:95415828-95415829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560859346	chr13:95415829-95415830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531963643	chr13:95415849-95415850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545791763	chr13:95415860-95415861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9590078	chr13:95415865-95415866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531354370	chr13:95415881-95415882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4771893	chr13:95415932-95415933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567951797	chr13:95415978-95415979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95412800-95414600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:95413200-95414600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:95413800-95415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:95414000-95414800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:95414000-95417400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95414200-95414600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:95414200-95415200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:95415000-95415400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:95415200-95415400	Enhancers	NH-A	brain
10	chr13:95415200-95416000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:95415400-95416800	Weak transcription	NH-A	brain
12	chr13:95415800-95417600	Enhancers	Dnd41	blood
13	chr13:95416000-95417000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:95416800-95417400	Enhancers	NH-A	brain
15	chr13:95417000-95418600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:95417400-95418600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:95418600-95422200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:95419800-95421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:95420800-95421000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:95420800-95421800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:95421000-95421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95421000-95421400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:95421000-95421600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:95421000-95422200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:95421000-95422800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:95421200-95422200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:95421200-95422400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:95421400-95421600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:95421400-95421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:95421600-95421800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:95421600-95421800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:95421600-95422000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:95421600-95423000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95421800-95422400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:95422200-95422400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:95422200-95422800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:95422200-95423000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:95422400-95422600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:95422400-95422800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:95422600-95422800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:95422600-95431800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:95427200-95427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:95427200-95427400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:95427200-95427600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:95427600-95428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:95428200-95428400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
47	chr13:95428600-95428800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:95428600-95430000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:95428800-95430200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:95429200-95430000	Enhancers	HUES48 Cell Line	embryonic stem cell

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