Variant report

Variant	esv3332738
Chromosome Location	chr17:46013781-46014322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr17:46013090-46013787	HCT-116	colon:	n/a	n/a
2	GATA1	chr17:46013160-46013790	PBDE	blood:	n/a	n/a
3	MAX	chr17:46013015-46013798	A549	lung:	n/a	n/a
4	MAX	chr17:46013289-46013900	Hela-S3	cervix:	n/a	n/a
5	MAX	chr17:46014039-46014583	K562	blood:	n/a	n/a
6	POLR2A	chr17:46013312-46013817	K562	blood:	n/a	n/a
7	POLR2A	chr17:46013339-46013798	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr17:46013107-46013819	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr17:46014321-46014334	K562	blood:	n/a	n/a
10	TEAD4	chr17:46013155-46013800	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45985712..45987886-chr17:46012163..46013782,2	MCF-7	breast:
2	chr17:46005701..46007603-chr17:46012685..46014665,2	K562	blood:
3	chr17:45978248..45980745-chr17:46013180..46016044,2	K562	blood:
4	chr17:45972283..45976323-chr17:46012255..46015718,3	MCF-7	breast:

No data

Variant related genes	Relation type
PNPO	TF binding region
ENSG00000266601	TF binding region
ENSG00000167182	chromatin interactions
ENSG00000264920	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577343320	chr17:46013862-46013863	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs182437879	chr17:46013908-46013909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187136538	chr17:46013911-46013912	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572222632	chr17:46013926-46013927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34684764	chr17:46014010-46014011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540876445	chr17:46014020-46014021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561174482	chr17:46014028-46014029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539923612	chr17:46014040-46014041	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs137992201	chr17:46014041-46014042	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs78725771	chr17:46014052-46014053	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78604446	chr17:46014076-46014077	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs142927493	chr17:46014106-46014107	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs11655352	chr17:46014128-46014129	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs11655068	chr17:46014184-46014185	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs559026533	chr17:46014203-46014204	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537444629	chr17:46014283-46014284	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
2	chr17:45993800-46017400	Weak transcription	Psoas Muscle	Psoas
3	chr17:45999200-46018200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:46003200-46014200	Weak transcription	GM12878-XiMat	blood
5	chr17:46003200-46018400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:46004600-46018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:46005400-46017400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:46005400-46018200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:46006200-46017800	Weak transcription	Small Intestine	intestine
10	chr17:46006800-46015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:46007000-46015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:46007000-46018200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:46007000-46018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46007200-46018200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:46007600-46017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:46007600-46018200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:46007600-46018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:46007800-46018200	Weak transcription	Colonic Mucosa	Colon
19	chr17:46007800-46018400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:46007800-46018800	Weak transcription	Gastric	stomach
21	chr17:46008000-46015400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:46008000-46015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:46008000-46015400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:46008000-46015600	Weak transcription	Adipose Nuclei	Adipose
25	chr17:46008000-46015800	Weak transcription	Brain Hippocampus Middle	brain
26	chr17:46008000-46018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:46008000-46018200	Weak transcription	Fetal Intestine Large	intestine
28	chr17:46008000-46018200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:46008000-46018400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46008000-46018400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:46008200-46015400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:46008200-46015600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:46008200-46015800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:46008200-46017400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr17:46008200-46017400	Weak transcription	Pancreas	Pancrea
36	chr17:46008200-46017600	Weak transcription	Liver	Liver
37	chr17:46008200-46017600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:46008200-46017600	Weak transcription	Ovary	ovary
39	chr17:46008200-46017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:46008200-46018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr17:46008200-46018200	Weak transcription	Primary B cells from cord blood	blood
42	chr17:46008200-46018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr17:46008200-46018200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:46008200-46018200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:46008200-46018200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr17:46008200-46018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr17:46008200-46018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:46008200-46018400	Weak transcription	Aorta	Aorta
49	chr17:46008400-46015000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr17:46008400-46015400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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