Variant report

Variant	esv3479333
Chromosome Location	chr8:62440641-62441305
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	chr8:62441146-62441290	A549	lung:	n/a	chr8:62441207-62441220 chr8:62441207-62441218
2	CEBPB	chr8:62441053-62441328	IMR90	lung:	n/a	chr8:62441207-62441220 chr8:62441207-62441218
3	CEBPB	chr8:62441127-62441374	K562	blood:	n/a	chr8:62441207-62441220 chr8:62441207-62441218
4	CEBPB	chr8:62441187-62441278	H1-hESC	embryonic stem cell:	n/a	chr8:62441207-62441220 chr8:62441207-62441218
5	CEBPB	chr8:62441100-62441335	HepG2	liver:	n/a	chr8:62441207-62441220 chr8:62441207-62441218
6	CTCF	chr8:62440575-62440651	K562	blood:	n/a	n/a
7	CTCF	chr8:62440600-62440750	GM06990	blood:	n/a	n/a
8	CTCF	chr8:62440560-62440710	GM12875	blood:	n/a	n/a
9	CTCF	chr8:62440568-62440649	GM19239	blood:	n/a	n/a
10	CTCF	chr8:62440562-62440643	K562	blood:	n/a	n/a
11	CTCF	chr8:62440540-62440690	A549	lung:	n/a	n/a
12	CTCF	chr8:62440545-62440666	GM19238	blood:	n/a	n/a
13	CTCF	chr8:62440575-62440673	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:62441301-62441470	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:62440579-62440937	U87	brain:	n/a	n/a
16	POLR2A	chr8:62440283-62440700	A549	lung:	n/a	n/a
17	RAD21	chr8:62440476-62440780	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr8:62440421-62440740	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr8:62440507-62440746	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62437290..62439641-chr8:62440301..62441831,2	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000198363	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527817795	chr8:62440666-62440667	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549046352	chr8:62440679-62440680	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192017007	chr8:62440688-62440689	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs80243674	chr8:62440708-62440709	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556847739	chr8:62440737-62440738	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569086870	chr8:62440759-62440760	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539077858	chr8:62440770-62440771	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557768360	chr8:62440783-62440784	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572728512	chr8:62440789-62440790	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs75595379	chr8:62440918-62440919	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377565566	chr8:62440998-62440999	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs16927460	chr8:62441024-62441025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141996762	chr8:62441058-62441059	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375718508	chr8:62441105-62441106	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538231194	chr8:62441114-62441115	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533645241	chr8:62441131-62441132	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34829187	chr8:62441169-62441170	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs398008036	chr8:62441173-62441174	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545362904	chr8:62441210-62441211	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
5	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
6	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
7	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:62417000-62454000	Weak transcription	NHEK	skin
9	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
10	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
11	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
13	chr8:62425800-62452600	Weak transcription	Primary T cells from cord blood	blood
14	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
15	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:62428600-62444800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:62428600-62451600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:62429000-62452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
22	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
23	chr8:62430400-62449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:62430400-62449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:62430400-62449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
27	chr8:62430600-62442800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:62430600-62447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:62430600-62454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:62431600-62452800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:62431600-62455600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:62431600-62455600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:62431600-62456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:62431800-62447000	Weak transcription	Hela-S3	cervix
36	chr8:62432400-62455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:62433600-62449600	Weak transcription	Lung	lung
38	chr8:62433800-62443200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:62433800-62449600	Weak transcription	Fetal Stomach	stomach
40	chr8:62434200-62452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
42	chr8:62434400-62455600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:62434600-62446000	Weak transcription	Left Ventricle	heart
44	chr8:62434600-62449000	Weak transcription	Aorta	Aorta
45	chr8:62434600-62452200	Weak transcription	Gastric	stomach
46	chr8:62434600-62452400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:62435800-62440800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:62435800-62447200	Weak transcription	NH-A	brain
49	chr8:62435800-62449400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:62436800-62449000	Weak transcription	Rectal Smooth Muscle	rectum

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