Variant report

Variant	esv1577681
Chromosome Location	chr8:104382914-104383234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:104383223-104384035	GM12878	blood:	n/a	n/a
2	CTCF	chr8:104383183-104383614	K562	blood:	n/a	n/a
3	FOXA2	chr8:104382480-104382962	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104380544..104384762-chr8:104386449..104389451,3	K562	blood:
2	chr8:104382426..104384366-chr8:104426073..104428422,3	MCF-7	breast:
3	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:
4	chr8:104382288..104384118-chr8:104384150..104386828,2	MCF-7	breast:
5	chr8:104381633..104383715-chr8:104424202..104427564,3	K562	blood:
6	chr8:104382282..104385358-chr8:104387344..104390689,3	K562	blood:
7	chr8:104291471..104292207-chr8:104382198..104383189,2	MCF-7	breast:
8	chr8:104382634..104385222-chr8:104394415..104397249,2	K562	blood:
9	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:

No data

Variant related genes	Relation type
CTHRC1	TF binding region
ENSG00000247081	chromatin interactions
ENSG00000164930	chromatin interactions
ENSG00000164932	chromatin interactions
ENSG00000207399	chromatin interactions
ENSG00000164934	chromatin interactions
ENSG00000266289	chromatin interactions
ENSG00000164933	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535946793	chr8:104382915-104382916	Weak transcription Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs554230468	chr8:104382916-104382917	Weak transcription Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs62525535	chr8:104382917-104382918	Weak transcription Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs62525536	chr8:104382970-104382971	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs62525537	chr8:104382978-104382979	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs62525538	chr8:104382992-104382993	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs62525539	chr8:104382997-104382998	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs201845082	chr8:104383027-104383028	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs529323406	chr8:104383029-104383030	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs375088999	chr8:104383039-104383040	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs62525540	chr8:104383059-104383060	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs62525541	chr8:104383067-104383068	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs62525542	chr8:104383073-104383074	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs62525543	chr8:104383084-104383085	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs200369071	chr8:104383087-104383088	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs62525544	chr8:104383088-104383089	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs62525545	chr8:104383124-104383125	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs111939848	chr8:104383131-104383132	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs62525546	chr8:104383144-104383145	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs62525547	chr8:104383149-104383150	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs200410403	chr8:104383152-104383153	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs113887327	chr8:104383174-104383175	Weak transcription Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs561732316	chr8:104383190-104383191	Weak transcription Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs6989245	chr8:104383217-104383218	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs6989247	chr8:104383219-104383220	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Developmental delay	21147756	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104357800-104383400	Weak transcription	Aorta	Aorta
2	chr8:104377800-104383400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:104378000-104383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:104378000-104383400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:104381600-104383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:104382400-104383400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104382400-104383400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:104382600-104383400	Weak transcription	NH-A	brain
9	chr8:104382800-104383800	Active TSS	HepG2	liver
10	chr8:104382800-104384000	Active TSS	A549	lung
11	chr8:104382800-104384200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:104382800-104384200	Active TSS	K562	blood
13	chr8:104383000-104384400	Weak transcription	Dnd41	blood
14	chr8:104383200-104383400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:104383200-104383400	Active TSS	Primary B cells from cord blood	blood
16	chr8:104383200-104383400	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
17	chr8:104383200-104383400	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:104383200-104383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:104383200-104383400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:104383200-104383400	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:104383200-104383400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:104383200-104383400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:104383200-104383400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:104383200-104383400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:104383200-104383400	Active TSS	Adipose Nuclei	Adipose
26	chr8:104383200-104383400	Active TSS	Fetal Stomach	stomach
27	chr8:104383200-104383400	Active TSS	Fetal Thymus	thymus
28	chr8:104383200-104383400	Enhancers	Right Ventricle	heart
29	chr8:104383200-104383400	Enhancers	HMEC	breast
30	chr8:104383200-104383600	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:104383200-104383800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:104383200-104383800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr8:104383200-104384000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:104383200-104384000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:104383200-104384000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:104383200-104384000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr8:104383200-104384200	Active TSS	Primary T cells from cord blood	blood
38	chr8:104383200-104384200	Active TSS	Thymus	Thymus
39	chr8:104383200-104384400	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr8:104383200-104384400	Bivalent/Poised TSS	NHEK	skin

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