Variant report

Variant	nsv962273
Chromosome Location	chr17:17144678-17146775
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:4)
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	POLR2A	chr17:17145511-17145779	MCF-7	breast:	n/a	n/a
2	POLR2A	chr17:17145721-17145747	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:17146711-17146935	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:17139635..17142575-chr17:17144486..17149716,4	K562	blood:
2	chr17:17142459..17145077-chr17:17167559..17169849,2	K562	blood:
3	chr17:17142608..17144134-chr17:17146092..17148091,2	K562	blood:
4	chr17:17139354..17141733-chr17:17143268..17148053,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226359	TF binding region
ENSG00000264187	TF binding region
FLCN	TF binding region
ENSG00000265109	TF binding region
ENSG00000266498	chromatin interactions
ENSG00000264187	chromatin interactions
ENSG00000154803	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34605745	chr17:17144704-17144705	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113036425	chr17:17144767-17144768	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs541758201	chr17:17144788-17144789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374559769	chr17:17144789-17144790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546126593	chr17:17144820-17144821	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552982868	chr17:17144836-17144837	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536081627	chr17:17144852-17144853	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1736207	chr17:17144854-17144855	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113567710	chr17:17144874-17144875	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560917168	chr17:17144877-17144878	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574607157	chr17:17144884-17144885	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192708777	chr17:17144885-17144886	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs1708626	chr17:17144908-17144909	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs138236656	chr17:17144946-17144947	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552871326	chr17:17144973-17144974	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs1736206	chr17:17144978-17144979	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528769543	chr17:17144988-17144989	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548225798	chr17:17145022-17145023	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568020510	chr17:17145038-17145039	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs148870461	chr17:17145054-17145055	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs143560312	chr17:17145072-17145073	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570667272	chr17:17145083-17145084	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138171866	chr17:17145105-17145106	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553259816	chr17:17145115-17145116	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs572822350	chr17:17145125-17145126	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535330531	chr17:17145133-17145134	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113161761	chr17:17145154-17145155	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
28	rs557784117	chr17:17145164-17145165	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574443648	chr17:17145191-17145192	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370148698	chr17:17145192-17145193	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563618712	chr17:17145200-17145201	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs184464900	chr17:17145201-17145202	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs143735690	chr17:17145313-17145314	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs559954699	chr17:17145324-17145325	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs528806221	chr17:17145350-17145351	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs548854440	chr17:17145362-17145363	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561714919	chr17:17145412-17145413	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs147231306	chr17:17145419-17145420	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs114834121	chr17:17145431-17145432	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570431002	chr17:17145445-17145446	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs138651358	chr17:17145446-17145447	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs190584351	chr17:17145462-17145463	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566288652	chr17:17145490-17145491	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs181974803	chr17:17145492-17145493	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555237211	chr17:17145514-17145515	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs574531320	chr17:17145518-17145519	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs186364327	chr17:17145522-17145523	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs557298948	chr17:17145523-17145524	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs540427645	chr17:17145525-17145526	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs577284507	chr17:17145533-17145534	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Pancreatic cancer	21811587	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

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17141400-17145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17141400-17150400	Weak transcription	Aorta	Aorta
3	chr17:17141600-17145200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:17141600-17145400	Weak transcription	Lung	lung
5	chr17:17141600-17148600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:17141600-17149000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:17141600-17149000	Weak transcription	Fetal Brain Female	brain
8	chr17:17141600-17149000	Weak transcription	Left Ventricle	heart
9	chr17:17141600-17149000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:17141600-17149200	Weak transcription	Brain Substantia Nigra	brain
11	chr17:17141600-17149200	Weak transcription	Right Ventricle	heart
12	chr17:17141600-17149200	Weak transcription	Spleen	Spleen
13	chr17:17141600-17149200	Weak transcription	HSMMtube	muscle
14	chr17:17141600-17149600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:17141600-17149800	Weak transcription	Esophagus	oesophagus
16	chr17:17141600-17149800	Weak transcription	Fetal Kidney	kidney
17	chr17:17141600-17150600	Weak transcription	Brain Angular Gyrus	brain
18	chr17:17141600-17161200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:17141800-17145200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:17141800-17145200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:17141800-17148600	Weak transcription	Brain Hippocampus Middle	brain
22	chr17:17141800-17148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:17141800-17148800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:17141800-17148800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:17141800-17148800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:17141800-17148800	Weak transcription	Fetal Stomach	stomach
27	chr17:17141800-17148800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:17141800-17149000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17141800-17149000	Weak transcription	Primary B cells from cord blood	blood
30	chr17:17141800-17149000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:17141800-17149000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:17141800-17149000	Weak transcription	Liver	Liver
33	chr17:17141800-17149000	Weak transcription	Brain Anterior Caudate	brain
34	chr17:17141800-17149000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr17:17141800-17149000	Weak transcription	Fetal Intestine Large	intestine
36	chr17:17141800-17149200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:17141800-17149200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:17141800-17149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:17141800-17149200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:17141800-17149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:17141800-17149200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr17:17141800-17149200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr17:17141800-17149200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:17141800-17149200	Weak transcription	NH-A	brain
45	chr17:17141800-17149200	Weak transcription	NHDF-Ad	bronchial
46	chr17:17141800-17149200	Weak transcription	NHEK	skin
47	chr17:17141800-17149400	Weak transcription	NHLF	lung
48	chr17:17141800-17149600	Weak transcription	Small Intestine	intestine
49	chr17:17141800-17149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:17141800-17150000	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links