Variant report

Variant	esv3348258
Chromosome Location	chr17:17379387-17379776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17379358-17379408	ovcar-3	ovarian:	n/a
2	chr17:17379752-17379802	HMEC	breast:	n/a
3	chr17:17379358-17379408	PANC-1	pancreas:	n/a
4	chr17:17379752-17379802	NH-A	brain:	n/a
5	chr17:17379752-17379802	HCT-116	colon:	n/a
6	chr17:17379358-17379408	HepG2	liver:	n/a
7	chr17:17379358-17379408	HRE	kidney:	n/a
8	chr17:17379752-17379802	AoSMC	blood vessel:	n/a
9	chr17:17379752-17379802	SK-N-SH_RA	brain:	n/a
10	chr17:17379358-17379408	Hela-S3	cervix:	n/a
11	chr17:17379752-17379802	PrEC	prostate:	n/a
12	chr17:17379358-17379408	HRPEpiC	eye:	n/a
13	chr17:17379752-17379802	NHBE	bronchial:	n/a
14	chr17:17379752-17379802	HCM	heart:	n/a
15	chr17:17379752-17379802	PANC-1	pancreas:	n/a
16	chr17:17379358-17379408	CMK	blood:	n/a
17	chr17:17379752-17379802	AG10803	skin:	n/a
18	chr17:17379752-17379802	HRCEpiC	kidney:	n/a
19	chr17:17379358-17379408	HRCEpiC	kidney:	n/a
20	chr17:17379358-17379408	HCF	heart:	n/a
21	chr17:17379752-17379802	Hepatocyte	liver:	n/a
22	chr17:17379752-17379802	Caco-2	colon:	n/a
23	chr17:17379358-17379408	HPAEpiC	pulmonary alveolar:	n/a
24	chr17:17379358-17379408	SKMC	muscle:	n/a
25	chr17:17379752-17379802	T-47D	breast:	n/a
26	chr17:17379358-17379408	GM19239	blood:	n/a
27	chr17:17379358-17379408	HCM	heart:	n/a
28	chr17:17379358-17379408	RPTEC	kidney:	n/a
29	chr17:17379752-17379802	SAEC	small airway:	n/a
30	chr17:17379358-17379408	U87	brain:	n/a
31	chr17:17379358-17379408	Caco-2	colon:	n/a
32	chr17:17379358-17379408	HL-60	blood:	n/a
33	chr17:17379752-17379802	BJ	skin:	n/a
34	chr17:17379358-17379408	AG10803	skin:	n/a
35	chr17:17379358-17379408	AG09309	skin:	n/a
36	chr17:17379752-17379802	MCF-7	breast:	n/a
37	chr17:17379752-17379802	AG09309	skin:	n/a
38	chr17:17379752-17379802	SKMC	muscle:	n/a
39	chr17:17379358-17379408	IMR90	lung:	fetal
40	chr17:17379752-17379802	HAEpiC	amniotic membrane:	n/a
41	chr17:17379752-17379802	HRE	kidney:	n/a
42	chr17:17379358-17379408	BJ	skin:	n/a
43	chr17:17379358-17379408	AoSMC	blood vessel:	n/a
44	chr17:17379752-17379802	SK-N-MC	brain:	n/a
45	chr17:17379358-17379408	HEK293	kidney:	embryo
46	chr17:17379752-17379802	LNCaP	prostate:	n/a
47	chr17:17379752-17379802	BE2_C	brain:	n/a
48	chr17:17379752-17379802	HL-60	blood:	n/a
49	chr17:17379358-17379408	NB4	blood:	n/a
50	chr17:17379358-17379408	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr17:17290560..17292342-chr17:17378041..17380234,2	MCF-7	breast:
2	chr17:17377592..17379713-chr17:17402478..17404778,3	K562	blood:
3	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
4	chr17:17360225..17362152-chr17:17377850..17379702,2	MCF-7	breast:

No data

Variant related genes	Relation type
MED9	CpG island
ENSG00000108551	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543892799	chr17:17379397-17379398	Weak transcription Enhancers Active TSS Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143142916	chr17:17379406-17379407	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187571263	chr17:17379421-17379422	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552617148	chr17:17379423-17379424	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566334219	chr17:17379488-17379489	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1242501	chr17:17379517-17379518	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62063624	chr17:17379534-17379535	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548647394	chr17:17379535-17379536	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17723136	chr17:17379580-17379581	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145926435	chr17:17379649-17379650	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562906098	chr17:17379673-17379674	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531717290	chr17:17379685-17379686	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570235474	chr17:17379749-17379750	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539013328	chr17:17379775-17379776	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

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
Gastric cancer	18160780	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
2	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17372000-17380200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:17374400-17379400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:17374800-17380200	Weak transcription	Brain Substantia Nigra	brain
6	chr17:17376000-17379400	Weak transcription	Dnd41	blood
7	chr17:17376000-17380200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:17376000-17380200	Weak transcription	Fetal Brain Female	brain
9	chr17:17376000-17380200	Weak transcription	Gastric	stomach
10	chr17:17376000-17380400	Weak transcription	Fetal Brain Male	brain
11	chr17:17376200-17380000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:17376200-17380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17376200-17380200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:17376200-17380200	Weak transcription	Brain Angular Gyrus	brain
15	chr17:17376200-17380200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:17376400-17380200	Weak transcription	Brain Germinal Matrix	brain
17	chr17:17376600-17379400	Weak transcription	Brain Anterior Caudate	brain
18	chr17:17376600-17379400	Weak transcription	Hela-S3	cervix
19	chr17:17376600-17380200	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:17378000-17380200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:17378000-17380200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:17378800-17379400	Weak transcription	Adipose Nuclei	Adipose
23	chr17:17378800-17380000	Enhancers	Spleen	Spleen
24	chr17:17379000-17379400	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr17:17379000-17379800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr17:17379000-17380000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:17379200-17379600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:17379200-17379800	Enhancers	Brain Cingulate Gyrus	brain
29	chr17:17379200-17380000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:17379200-17380000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:17379200-17380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:17379200-17380200	Weak transcription	Fetal Intestine Small	intestine
33	chr17:17379400-17379600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17379400-17379600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:17379400-17379600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr17:17379400-17379600	Active TSS	Adipose Nuclei	Adipose
37	chr17:17379400-17379600	Enhancers	Esophagus	oesophagus
38	chr17:17379400-17379600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr17:17379400-17379800	Enhancers	Right Ventricle	heart
40	chr17:17379400-17380000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr17:17379400-17380000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr17:17379400-17380000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr17:17379400-17380000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr17:17379400-17380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:17379400-17380000	Enhancers	Fetal Muscle Trunk	muscle
46	chr17:17379400-17380000	Enhancers	Pancreas	Pancrea
47	chr17:17379400-17380000	Enhancers	Hela-S3	cervix
48	chr17:17379400-17380200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:17379400-17380200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:17379400-17380200	Enhancers	Fetal Thymus	thymus

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