Variant report

Variant	esv12579
Chromosome Location	chr13:37679949-37681397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:37680645-37680711	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr13:37681127-37681172	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr13:37680782-37681277	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr13:37680915-37680954	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr13:37680084-37680193	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr13:37680660-37680813	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr13:37680740-37681094	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr13:37680791-37681169	H1-hESC	embryonic stem cell:	n/a	n/a
9	NR3C1	chr13:37680875-37681010	ECC-1	luminal epithelium:	n/a	n/a
10	PRDM1	chr13:37679991-37680191	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr13:37680753-37681122	H1-hESC	embryonic stem cell:	n/a	chr13:37681000-37681009
12	USF1	chr13:37680851-37681142	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr13:37680797-37681264	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF2	chr13:37680887-37681131	H1-hESC	embryonic stem cell:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:37681255-37681305	SK-N-SH	brain:	n/a
2	chr13:37681255-37681305	SK-N-SH	brain:	n/a
3	chr13:37680691-37680741	SAEC	small airway:	n/a
4	chr13:37680829-37680879	NH-A	brain:	n/a
5	chr13:37680691-37680741	U87	brain:	n/a
6	chr13:37679951-37680001	HepG2	liver:	n/a
7	chr13:37680829-37680879	SAEC	small airway:	n/a
8	chr13:37679978-37680028	AG09309	skin:	n/a
9	chr13:37680691-37680741	Caco-2	colon:	n/a
10	chr13:37679978-37680028	AoSMC	blood vessel:	n/a
11	chr13:37679978-37680028	SKMC	muscle:	n/a
12	chr13:37679978-37680028	U87	brain:	n/a
13	chr13:37679978-37680028	AG04449	skin:	fetal
14	chr13:37679951-37680001	HEK293	kidney:	embryo
15	chr13:37681255-37681305	SK-N-MC	brain:	n/a
16	chr13:37680829-37680879	Caco-2	colon:	n/a
17	chr13:37681255-37681305	HRPEpiC	eye:	n/a
18	chr13:37679978-37680028	HRE	kidney:	n/a
19	chr13:37679951-37680001	HCPEpiC	choroid plexus:	n/a
20	chr13:37680829-37680879	HL-60	blood:	n/a
21	chr13:37679978-37680028	SAEC	small airway:	n/a
22	chr13:37680829-37680879	HAEpiC	amniotic membrane:	n/a
23	chr13:37681255-37681305	AG04449	skin:	fetal
24	chr13:37679951-37680001	PrEC	prostate:	n/a
25	chr13:37680829-37680879	HCPEpiC	choroid plexus:	n/a
26	chr13:37679978-37680028	HIPEpiC	eye:	n/a
27	chr13:37679978-37680028	HUVEC	blood vessel:	n/a
28	chr13:37679978-37680028	HRPEpiC	eye:	n/a
29	chr13:37679978-37680028	GM12892	blood:	n/a
30	chr13:37679978-37680028	Caco-2	colon:	n/a
31	chr13:37679951-37680001	PANC-1	pancreas:	n/a
32	chr13:37679978-37680028	PANC-1	pancreas:	n/a
33	chr13:37679978-37680028	K562	blood:	n/a
34	chr13:37680829-37680879	GM12892	blood:	n/a
35	chr13:37679978-37680028	HMEC	breast:	n/a
36	chr13:37680829-37680879	SK-N-SH_RA	brain:	n/a
37	chr13:37680691-37680741	K562	blood:	n/a
38	chr13:37680829-37680879	NB4	blood:	n/a
39	chr13:37681255-37681305	BE2_C	brain:	n/a
40	chr13:37679951-37680001	HMEC	breast:	n/a
41	chr13:37680691-37680741	GM19239	blood:	n/a
42	chr13:37679951-37680001	LNCaP	prostate:	n/a
43	chr13:37679978-37680028	MCF-7	breast:	n/a
44	chr13:37680829-37680879	HRCEpiC	kidney:	n/a
45	chr13:37679978-37680028	Hepatocyte	liver:	n/a
46	chr13:37679951-37680001	HCF	heart:	n/a
47	chr13:37679978-37680028	Jurkat	blood:	n/a
48	chr13:37680691-37680741	HEEpiC	esophagus:	n/a
49	chr13:37679978-37680028	Hela-S3	cervix:	n/a
50	chr13:37680829-37680879	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
CSNK1A1L	TF binding region
CSNK1A1L	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567630934	chr13:37680029-37680030	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs11147625	chr13:37680081-37680082	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11147626	chr13:37680086-37680087	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192520058	chr13:37680089-37680090	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11147627	chr13:37680101-37680102	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs557069988	chr13:37680127-37680128	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369505800	chr13:37680143-37680144	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542277456	chr13:37680147-37680148	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9566177	chr13:37680170-37680171	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534708611	chr13:37680187-37680188	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs9566178	chr13:37680196-37680197	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541359526	chr13:37680257-37680258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9566179	chr13:37680258-37680259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144252769	chr13:37680259-37680260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9576180	chr13:37680305-37680306	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374911354	chr13:37680382-37680383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182823741	chr13:37680396-37680397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531042559	chr13:37680397-37680398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549471979	chr13:37680428-37680429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369574398	chr13:37680487-37680488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567693972	chr13:37680593-37680594	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535004118	chr13:37680611-37680612	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149914926	chr13:37680622-37680623	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144947097	chr13:37680678-37680679	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377337772	chr13:37680687-37680688	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571452206	chr13:37680705-37680706	Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs188035927	chr13:37680716-37680717	Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs115754874	chr13:37680742-37680743	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575065280	chr13:37680743-37680744	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs1199975	chr13:37680765-37680766	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9576181	chr13:37680787-37680788	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570737751	chr13:37680788-37680789	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539844705	chr13:37680808-37680809	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192458245	chr13:37680814-37680815	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs578194253	chr13:37680840-37680841	Enhancers Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs377477358	chr13:37680855-37680856	Enhancers Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs148988843	chr13:37680862-37680863	Enhancers Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs570431485	chr13:37680902-37680903	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563698495	chr13:37680947-37680948	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184787919	chr13:37681001-37681002	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs17054900	chr13:37681032-37681033	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529513135	chr13:37681069-37681070	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113846732	chr13:37681117-37681118	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs3852618	chr13:37681126-37681127	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147750092	chr13:37681224-37681225	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571579987	chr13:37681296-37681297	Enhancers Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs538577071	chr13:37681338-37681339	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3852619	chr13:37681345-37681346	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142610236	chr13:37681366-37681367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536028540	chr13:37681387-37681388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37673600-37680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:37677000-37680400	Weak transcription	Colon Smooth Muscle	Colon
3	chr13:37677200-37680200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:37677200-37680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:37677200-37680400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:37677400-37680600	Weak transcription	HSMMtube	muscle
7	chr13:37677800-37682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr13:37678600-37680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:37679800-37680000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:37679800-37680000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:37679800-37681800	Weak transcription	Spleen	Spleen
12	chr13:37679800-37682800	Weak transcription	Fetal Stomach	stomach
13	chr13:37680200-37681600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:37680200-37682000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:37680400-37680800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:37680400-37681400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:37680400-37681400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:37680400-37681400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:37680400-37681600	Enhancers	Colon Smooth Muscle	Colon
20	chr13:37680400-37682000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:37680400-37682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:37680400-37682600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:37680600-37681000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr13:37680600-37681200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:37680600-37681200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:37680600-37681200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr13:37680600-37681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:37680600-37681800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:37680600-37682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:37680800-37681000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:37680800-37681000	Enhancers	HSMMtube	muscle
32	chr13:37680800-37681200	Enhancers	Fetal Kidney	kidney
33	chr13:37681000-37681400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:37681200-37681600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr13:37681200-37682800	Weak transcription	Muscle Satellite Cultured Cells	--

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