Variant report

Variant	esv3363665
Chromosome Location	chr17:46044218-46044649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:46044471-46044784	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:46044527-46044786	A549	lung:	n/a	n/a
3	CEBPB	chr17:46044446-46044785	IMR90	lung:	n/a	n/a
4	MAX	chr17:46044508-46045845	A549	lung:	n/a	n/a
5	RCOR1	chr17:46044490-46045839	IMR90	lung:	n/a	n/a
6	SP1	chr17:46044633-46045817	A549	lung:	n/a	chr17:46045316-46045326 chr17:46045316-46045326

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45917724..45920476-chr17:46044625..46046608,2	MCF-7	breast:
2	chr17:46039634..46045111-chr17:46046533..46049867,10	K562	blood:
3	chr17:46040813..46045111-chr17:46046677..46049654,4	K562	blood:
4	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
5	chr17:46043414..46046355-chr17:46124548..46126704,2	MCF-7	breast:
6	chr17:46030056..46036320-chr17:46039939..46045055,5	K562	blood:

No data

Variant related genes	Relation type
CDK5RAP3	TF binding region
ENSG00000082641	chromatin interactions
ENSG00000141295	chromatin interactions
ENSG00000263412	chromatin interactions
ENSG00000108465	chromatin interactions
ENSG00000167183	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 119 )

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	rs567418044	chr17:46044223-46044224	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs370370211	chr17:46044267-46044268	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147117201	chr17:46044282-46044283	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs375564814	chr17:46044308-46044309	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374533043	chr17:46044309-46044310	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569607278	chr17:46044313-46044314	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs71141947	chr17:46044314-46044315	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs538557640	chr17:46044375-46044376	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374087082	chr17:46044409-46044410	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558086938	chr17:46044413-46044414	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs565564797	chr17:46044429-46044430	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs113962925	chr17:46044446-46044447	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs112218615	chr17:46044457-46044458	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs554353134	chr17:46044490-46044491	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs185487807	chr17:46044521-46044522	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs111575522	chr17:46044544-46044545	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs543653223	chr17:46044573-46044574	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs72823509	chr17:46044589-46044590	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143363858	chr17:46044600-46044601	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
12	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
14	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
15	chr17:46038000-46046400	Weak transcription	K562	blood
16	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
17	chr17:46042800-46045000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:46042800-46045800	Enhancers	Ovary	ovary
19	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
20	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:46043000-46046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
24	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach
25	chr17:46043200-46044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:46043200-46044800	Weak transcription	Placenta	Placenta
27	chr17:46043200-46046400	Weak transcription	Gastric	stomach
28	chr17:46043400-46044800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:46043400-46044800	Enhancers	A549	lung
30	chr17:46043400-46045000	Enhancers	Hela-S3	cervix
31	chr17:46043400-46045400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr17:46043600-46044800	Weak transcription	Lung	lung
33	chr17:46043600-46045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:46043600-46046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:46043800-46044800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr17:46043800-46045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:46043800-46045800	Enhancers	HMEC	breast
38	chr17:46043800-46045800	Enhancers	NHDF-Ad	bronchial
39	chr17:46044000-46044400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:46044000-46044800	Weak transcription	Esophagus	oesophagus
41	chr17:46044000-46045000	Weak transcription	Colonic Mucosa	Colon
42	chr17:46044000-46045600	Enhancers	HepG2	liver
43	chr17:46044200-46044600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr17:46044200-46044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:46044200-46044800	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:46044200-46045200	Weak transcription	HSMMtube	muscle
47	chr17:46044200-46047600	Weak transcription	Liver	Liver
48	chr17:46044400-46045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:46044600-46044800	Enhancers	NHEK	skin
50	chr17:46044600-46045000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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