Variant report

Variant	esv2461229
Chromosome Location	chr13:48032464-48033865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:48033654-48033999	IMR90	lung:	n/a	chr13:48033813-48033826
2	CEBPB	chr13:48033652-48033970	MCF-7	breast:	n/a	chr13:48033813-48033826
3	CEBPB	chr13:48033660-48033989	Hela-S3	cervix:	n/a	chr13:48033813-48033826
4	CEBPB	chr13:48033704-48033972	H1-hESC	embryonic stem cell:	n/a	chr13:48033813-48033826
5	CTCF	chr13:48033778-48033895	LNCaP	prostate:	n/a	n/a
6	CTCF	chr13:48033780-48033930	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr13:48033770-48033907	HepG2	liver:	n/a	n/a
8	CTCF	chr13:48033736-48033950	Gliobla	brain:	n/a	n/a
9	CTCF	chr13:48033720-48033870	GM12874	blood:	n/a	n/a
10	CTCF	chr13:48033709-48033909	K562	blood:	n/a	n/a
11	CTCF	chr13:48033720-48033870	GM12873	blood:	n/a	n/a
12	CTCF	chr13:48033760-48033910	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr13:48033813-48033871	GM13976	blood:	n/a	n/a
14	CTCF	chr13:48033780-48033930	HPF	lung:	n/a	n/a
15	CTCF	chr13:48033720-48033870	HCFaa	heart:	n/a	n/a
16	CTCF	chr13:48033780-48033930	HAc	cerebellar:	n/a	n/a
17	CTCF	chr13:48033760-48033910	HL-60	blood:	n/a	n/a
18	CTCF	chr13:48033669-48034017	GM12878	blood:	n/a	n/a
19	CTCF	chr13:48033760-48033910	GM12872	blood:	n/a	n/a
20	CTCF	chr13:48033805-48033988	Medullo	brain:	n/a	n/a
21	CTCF	chr13:48033740-48033890	GM12873	blood:	n/a	n/a
22	CTCF	chr13:48033760-48033910	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr13:48033754-48033891	MCF-7	breast:	n/a	n/a
24	CTCF	chr13:48033800-48033950	GM12866	blood:	n/a	n/a
25	CTCF	chr13:48033720-48033870	GM12872	blood:	n/a	n/a
26	CTCF	chr13:48033780-48033930	GM12865	blood:	n/a	n/a
27	CTCF	chr13:48033740-48033890	AG09319	gingival:	n/a	n/a
28	CTCF	chr13:48033784-48033904	GM10266	blood:	n/a	n/a
29	CTCF	chr13:48033740-48033890	Caco-2	colon:	n/a	n/a
30	CTCF	chr13:48033780-48033930	GM12867	blood:	n/a	n/a
31	CTCF	chr13:48033742-48033858	Fibrobl	skin:	n/a	n/a
32	CTCF	chr13:48033660-48033810	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr13:48033740-48033890	AG09309	skin:	n/a	n/a
34	CTCF	chr13:48033740-48033890	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr13:48033729-48033902	T-47D	breast:	n/a	n/a
36	CTCF	chr13:48033760-48033910	HMF	breast:	n/a	n/a
37	CTCF	chr13:48033700-48033850	GM12875	blood:	n/a	n/a
38	CTCF	chr13:48033760-48033910	BE2_C	brain:	n/a	n/a
39	CTCF	chr13:48033700-48033850	GM12864	blood:	n/a	n/a
40	CTCF	chr13:48033782-48033904	K562	blood:	n/a	n/a
41	CTCF	chr13:48033780-48033930	HVMF	connective:	n/a	n/a
42	CTCF	chr13:48033760-48033910	AG04450	lung:	n/a	n/a
43	CTCF	chr13:48033744-48033921	MCF-7	breast:	n/a	n/a
44	CTCF	chr13:48033780-48033930	AG09319	gingival:	n/a	n/a
45	CTCF	chr13:48033780-48033930	GM12874	blood:	n/a	n/a
46	CTCF	chr13:48033740-48033890	GM12878	blood:	n/a	n/a
47	CTCF	chr13:48033623-48033943	MCF-7	breast:	n/a	n/a
48	CTCF	chr13:48033780-48033930	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr13:48033740-48033890	HFF	foreskin:	n/a	n/a
50	CTCF	chr13:48033800-48033950	HRPEpiC	eye:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUCLA2-11	chr13:48033078-48033369	NONHSAT033680

No data

Variant related genes	Relation type
RN7SL700P	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369257814	chr13:48032515-48032516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574320517	chr13:48032563-48032564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541447237	chr13:48032609-48032610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372987975	chr13:48032661-48032662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114348296	chr13:48032681-48032682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182871054	chr13:48032692-48032693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73182288	chr13:48032714-48032715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146659193	chr13:48032721-48032722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567014070	chr13:48032768-48032769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528292047	chr13:48032782-48032783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573021989	chr13:48032821-48032822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568359664	chr13:48032824-48032825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9595711	chr13:48032831-48032832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562056546	chr13:48032852-48032853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77730722	chr13:48032862-48032863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186682452	chr13:48032892-48032893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148859746	chr13:48032895-48032896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550600691	chr13:48032923-48032924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143480186	chr13:48032939-48032940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192574660	chr13:48032959-48032960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535237040	chr13:48032980-48032981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553365545	chr13:48033023-48033024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371835063	chr13:48033112-48033113	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs150990210	chr13:48033132-48033133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs542153111	chr13:48033133-48033134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs140806207	chr13:48033135-48033136	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs546294116	chr13:48033173-48033174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs183529258	chr13:48033205-48033206	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs9567866	chr13:48033224-48033225	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545444250	chr13:48033238-48033239	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs564215475	chr13:48033314-48033315	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs546700428	chr13:48033321-48033322	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs566427629	chr13:48033359-48033360	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536084919	chr13:48033361-48033362	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs116228041	chr13:48033362-48033363	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs540444250	chr13:48033388-48033389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9567867	chr13:48033401-48033402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs529186348	chr13:48033406-48033407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550933508	chr13:48033416-48033417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570019170	chr13:48033428-48033429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9526336	chr13:48033464-48033465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146184550	chr13:48033534-48033535	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377484556	chr13:48033540-48033541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570946392	chr13:48033544-48033545	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534837546	chr13:48033579-48033580	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569211328	chr13:48033620-48033621	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547158398	chr13:48033628-48033629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111573692	chr13:48033630-48033631	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs370730857	chr13:48033647-48033648	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs193192010	chr13:48033650-48033651	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48029800-48033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:48029800-48033400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:48029800-48033600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:48029800-48033600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:48029800-48033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:48029800-48037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:48030000-48033600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:48030000-48033600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:48030200-48033400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:48031800-48033400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48031800-48033400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:48031800-48033400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:48032000-48036000	Weak transcription	Hela-S3	cervix
14	chr13:48033200-48034000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:48033400-48033800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:48033400-48033800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:48033400-48033800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:48033400-48034400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:48033400-48034400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:48033400-48034600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:48033600-48033800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr13:48033600-48034200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:48033600-48034200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:48033600-48034200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:48033600-48034400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:48033800-48034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:48033800-48037600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:48033800-48037800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:48033800-48037800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:48033800-48038000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links