Variant report

Variant	esv17659
Chromosome Location	chr8:11899912-11940002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:11921281-11921530	GM12878	blood:	n/a	n/a
2	BATF	chr8:11921283-11921507	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:11909083-11909117	A549	lung:	n/a	chr8:11909099-11909108 chr8:11909099-11909108 chr8:11909097-11909110 chr8:11909097-11909110 chr8:11909099-11909108
4	CEBPB	chr8:11908914-11909287	Hela-S3	cervix:	n/a	chr8:11909099-11909108 chr8:11909099-11909108 chr8:11909097-11909110 chr8:11909097-11909110 chr8:11909099-11909108
5	CTCF	chr8:11918048-11918058	Medullo	brain:	n/a	n/a
6	CTCF	chr8:11908419-11908451	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr8:11905919-11905992	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr8:11921293-11921467	MCF-7	breast:	n/a	n/a
9	CTCF	chr8:11921162-11921552	A549	lung:	n/a	n/a
10	CTCF	chr8:11918021-11918104	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:11922387-11922456	GM13977	blood:	n/a	n/a
12	CTCF	chr8:11924589-11924699	GM13977	blood:	n/a	n/a
13	CTCF	chr8:11912601-11912655	LNCaP	prostate:	n/a	n/a
14	CTCF	chr8:11927116-11927258	Lung_OC	lung:	n/a	n/a
15	CTCF	chr8:11908779-11908816	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr8:11921151-11921526	K562	blood:	n/a	n/a
17	CTCF	chr8:11921273-11921448	GM13977	blood:	n/a	n/a
18	CTCF	chr8:11918054-11918057	GM10248	blood:	n/a	n/a
19	CTCF	chr8:11921216-11921505	LNCaP	prostate:	n/a	n/a
20	CTCF	chr8:11918025-11918104	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:11926382-11926443	Medullo	brain:	n/a	n/a
22	CTCF	chr8:11921149-11921625	A549	lung:	n/a	n/a
23	CTCF	chr8:11921066-11921722	K562	blood:	n/a	n/a
24	CTCF	chr8:11918040-11918108	Gliobla	brain:	n/a	n/a
25	CTCF	chr8:11921230-11921473	K562	blood:	n/a	n/a
26	CTCF	chr8:11935368-11935485	Medullo	brain:	n/a	n/a
27	CTCF	chr8:11921057-11921602	A549	lung:	n/a	n/a
28	CTCF	chr8:11933378-11933476	Lung_OC	lung:	n/a	n/a
29	CTCF	chr8:11921299-11921463	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:11918005-11918132	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:11930330-11930393	GM20000	blood:	n/a	n/a
32	CTCF	chr8:11918002-11918122	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:11921304-11921424	NHEK	skin:	n/a	n/a
34	CTCF	chr8:11921259-11921442	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr8:11915853-11915916	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr8:11921147-11921571	K562	blood:	n/a	n/a
37	CTCF	chr8:11921213-11921499	Medullo	brain:	n/a	n/a
38	CTCF	chr8:11921253-11921435	ProgFib	skin:	n/a	n/a
39	CTCF	chr8:11917900-11918050	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr8:11921148-11921505	A549	lung:	n/a	n/a
41	CTCF	chr8:11921344-11921460	GM12891	blood:	n/a	n/a
42	CTCF	chr8:11917960-11918110	HEK293	kidney:	n/a	n/a
43	CTCF	chr8:11921198-11921498	LNCaP	prostate:	n/a	n/a
44	CTCF	chr8:11911839-11911928	GM13976	blood:	n/a	n/a
45	CTCF	chr8:11921251-11921436	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr8:11901063-11901078	LNCaP	prostate:	n/a	n/a
47	CTCF	chr8:11921291-11921412	Fibrobl	skin:	n/a	n/a
48	CTCF	chr8:11901028-11901082	GM13976	blood:	n/a	n/a
49	CTCF	chr8:11921242-11921484	A549	lung:	n/a	n/a
50	CTCF	chr8:11921308-11921399	Kidney_OC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11907551-11907601	HUVEC	blood vessel:	n/a
2	chr8:11907551-11907601	HCPEpiC	choroid plexus:	n/a
3	chr8:11907551-11907601	SAEC	small airway:	n/a
4	chr8:11907551-11907601	AoSMC	blood vessel:	n/a
5	chr8:11907551-11907601	HRPEpiC	eye:	n/a
6	chr8:11907551-11907601	GM12891	blood:	n/a
7	chr8:11907551-11907601	ProgFib	skin:	n/a
8	chr8:11907551-11907601	HCF	heart:	n/a
9	chr8:11907551-11907601	HRCEpiC	kidney:	n/a
10	chr8:11907551-11907601	HRE	kidney:	n/a
11	chr8:11907551-11907601	AG04450	lung:	fetal
12	chr8:11907551-11907601	GM12892	blood:	n/a
13	chr8:11907551-11907601	HIPEpiC	eye:	n/a
14	chr8:11907551-11907601	NB4	blood:	n/a
15	chr8:11907551-11907601	SKMC	muscle:	n/a
16	chr8:11907551-11907601	GM06990	blood:	n/a
17	chr8:11907551-11907601	GM19239	blood:	n/a
18	chr8:11907551-11907601	AG09309	skin:	n/a
19	chr8:11907551-11907601	A549	lung:	n/a
20	chr8:11907551-11907601	HAEpiC	amniotic membrane:	n/a
21	chr8:11907551-11907601	K562	blood:	n/a
22	chr8:11907551-11907601	PANC-1	pancreas:	n/a
23	chr8:11907551-11907601	RPTEC	kidney:	n/a
24	chr8:11907551-11907601	MCF-7	breast:	n/a
25	chr8:11907551-11907601	SK-N-SH_RA	brain:	n/a
26	chr8:11907551-11907601	HMEC	breast:	n/a
27	chr8:11907551-11907601	AG04449	skin:	fetal
28	chr8:11907551-11907601	NH-A	brain:	n/a
29	chr8:11907551-11907601	HepG2	liver:	n/a
30	chr8:11907551-11907601	LNCaP	prostate:	n/a
31	chr8:11907551-11907601	AG10803	skin:	n/a
32	chr8:11907551-11907601	SK-N-MC	brain:	n/a
33	chr8:11907551-11907601	HEK293	kidney:	embryo
34	chr8:11907551-11907601	SK-N-SH	brain:	n/a
35	chr8:11907551-11907601	HEEpiC	esophagus:	n/a
36	chr8:11907551-11907601	HL-60	blood:	n/a
37	chr8:11907551-11907601	IMR90	lung:	fetal
38	chr8:11907551-11907601	NT2-D1	testis:	n/a
39	chr8:11907551-11907601	H1-hESC	embryonic stem cell:	embryo
40	chr8:11907551-11907601	BE2_C	brain:	n/a
41	chr8:11907551-11907601	PFSK-1	brain:	n/a
42	chr8:11907551-11907601	AG09319	gingival:	n/a
43	chr8:11907551-11907601	BJ	skin:	n/a
44	chr8:11907551-11907601	T-47D	breast:	n/a
45	chr8:11907551-11907601	MCF10A-Er-Src	breast:	n/a
46	chr8:11907551-11907601	NHBE	bronchial:	n/a
47	chr8:11907551-11907601	Hela-S3	cervix:	n/a
48	chr8:11907551-11907601	PrEC	prostate:	n/a
49	chr8:11907551-11907601	ovcar-3	ovarian:	n/a
50	chr8:11907551-11907601	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:101006536..101007134-chr8:11906757..11907257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233050	TF binding region
ENSG00000254700	TF binding region
ENSG00000233050	CpG island
ENSG00000254700	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181336295	chr8:11905944-11905945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541038699	chr8:11929315-11929316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559378140	chr8:11929329-11929330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530157903	chr8:11929392-11929393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113414594	chr8:11929422-11929423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548873571	chr8:11929429-11929430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541895700	chr8:11933404-11933405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147702318	chr8:11933457-11933458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374548704	chr8:11933458-11933459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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