Variant report

Variant	esv3377563
Chromosome Location	chr17:18182661-18183016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:18182203-18182683	IMR90	lung:	n/a	n/a
2	POLR2A	chr17:18182687-18182918	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18150956..18154641-chr17:18182536..18186839,4	MCF-7	breast:
2	chr17:18174943..18176690-chr17:18181695..18183863,2	K562	blood:
3	chr17:18178546..18181267-chr17:18181551..18184917,3	MCF-7	breast:
4	chr17:18176357..18178339-chr17:18181722..18183407,2	MCF-7	breast:
5	chr17:18174083..18176777-chr17:18181802..18184397,2	MCF-7	breast:
6	chr17:18181056..18183487-chr17:18218391..18220269,2	MCF-7	breast:
7	chr17:18176302..18179122-chr17:18181821..18183871,2	K562	blood:
8	chr17:18164802..18166593-chr17:18182871..18185713,2	MCF-7	breast:

No data

Variant related genes	Relation type
TOP3A	TF binding region
ENSG00000177302	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000177731	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 162 )

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	rs571473845	chr17:18182696-18182697	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs28880370	chr17:18182720-18182721	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546006748	chr17:18182779-18182780	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs554124117	chr17:18182791-18182792	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs574271765	chr17:18182792-18182793	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs562792568	chr17:18182796-18182797	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112048561	chr17:18182801-18182802	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs556503167	chr17:18182813-18182814	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs576533471	chr17:18182815-18182816	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs545487043	chr17:18182817-18182818	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs531894680	chr17:18182850-18182851	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs376286585	chr17:18182894-18182895	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369837645	chr17:18182896-18182897	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs12938199	chr17:18182897-18182898	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs113270903	chr17:18182899-18182900	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs12937734	chr17:18182913-18182914	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs12937500	chr17:18182914-18182915	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs560968373	chr17:18182945-18182946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs529988568	chr17:18182979-18182980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:162)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18165800-18182800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:18166000-18183800	Weak transcription	Fetal Brain Male	brain
3	chr17:18166200-18183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:18167000-18188200	Weak transcription	Stomach Mucosa	stomach
5	chr17:18168800-18183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:18171000-18183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:18172400-18201000	Strong transcription	Fetal Stomach	stomach
9	chr17:18172800-18198400	Strong transcription	Thymus	Thymus
10	chr17:18173000-18198400	Strong transcription	Fetal Thymus	thymus
11	chr17:18173000-18199000	Strong transcription	Primary T cells from cord blood	blood
12	chr17:18173000-18200400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:18173000-18213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:18173200-18198400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:18173200-18200200	Strong transcription	Placenta	Placenta
16	chr17:18173400-18183600	Weak transcription	Fetal Heart	heart
17	chr17:18173400-18198200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr17:18173400-18198400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr17:18173400-18198800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:18173400-18200200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:18173400-18200800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:18173400-18201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:18173400-18201000	Strong transcription	Fetal Intestine Small	intestine
24	chr17:18173600-18190800	Strong transcription	A549	lung
25	chr17:18173600-18198200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr17:18173600-18200200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:18173600-18200800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:18174000-18200600	Strong transcription	Dnd41	blood
29	chr17:18174200-18200600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:18174800-18190600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr17:18174800-18198600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:18174800-18200600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:18175400-18189400	Strong transcription	NHLF	lung
34	chr17:18175600-18189200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:18175600-18196600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:18175600-18200800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:18175800-18184000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:18175800-18190200	Strong transcription	Brain Germinal Matrix	brain
39	chr17:18175800-18198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:18175800-18199000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr17:18175800-18200800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:18175800-18201000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:18176200-18190800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:18176200-18190800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:18176200-18198200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr17:18176200-18198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:18176200-18198600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:18176200-18200800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:18176400-18183600	Strong transcription	Brain Angular Gyrus	brain
50	chr17:18176400-18183600	Strong transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links