Variant report

Variant	nsv960436
Chromosome Location	chr17:19743595-19744663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr17:19743628-19743649	HepG2	liver:	n/a	n/a
2	MAFK	chr17:19743659-19743701	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:19743444-19743851	K562	blood:	n/a	n/a
4	POLR2A	chr17:19744299-19744996	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH3A2-4	chr17:19743439-19743828	NONHSAT146531

Variant related genes	Relation type
ULK2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565430936	chr17:19743604-19743605	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs377440401	chr17:19743626-19743627	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs281355	chr17:19743635-19743636	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561249161	chr17:19743637-19743638	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs139473687	chr17:19743707-19743708	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs553562045	chr17:19743749-19743750	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs549944261	chr17:19743764-19743765	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs186541641	chr17:19743783-19743784	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs532319876	chr17:19743788-19743789	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs117234108	chr17:19743803-19743804	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs565502443	chr17:19743814-19743815	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs539795598	chr17:19743836-19743837	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573445107	chr17:19743866-19743867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201662392	chr17:19743882-19743883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548244956	chr17:19743919-19743920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545726445	chr17:19743962-19743963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373676849	chr17:19744028-19744029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376145944	chr17:19744083-19744084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575742888	chr17:19744101-19744102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28416178	chr17:19744105-19744106	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192598121	chr17:19744132-19744133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183388516	chr17:19744140-19744141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546310940	chr17:19744144-19744145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539296539	chr17:19744151-19744152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559310416	chr17:19744153-19744154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188708024	chr17:19744188-19744189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143027112	chr17:19744193-19744194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541293812	chr17:19744246-19744247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149447113	chr17:19744250-19744251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565274712	chr17:19744293-19744294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575661296	chr17:19744312-19744313	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs16960480	chr17:19744328-19744329	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543796468	chr17:19744330-19744331	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544624258	chr17:19744353-19744354	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563297274	chr17:19744386-19744387	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143954766	chr17:19744392-19744393	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs545664127	chr17:19744462-19744463	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148650403	chr17:19744475-19744476	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370682657	chr17:19744534-19744535	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548124702	chr17:19744579-19744580	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568141229	chr17:19744601-19744602	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
3	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
4	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
5	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
6	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
8	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
9	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
10	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
11	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:19712600-19748400	Weak transcription	Fetal Brain Male	brain
16	chr17:19724200-19749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:19727400-19747600	Weak transcription	NHLF	lung
19	chr17:19727400-19749000	Weak transcription	Aorta	Aorta
20	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:19727600-19749000	Weak transcription	Fetal Thymus	thymus
22	chr17:19727600-19749600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:19728000-19753800	Weak transcription	Thymus	Thymus
25	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
26	chr17:19728200-19769800	Weak transcription	HSMM	muscle
27	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
28	chr17:19728400-19745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:19728600-19744000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:19728600-19745000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:19728600-19748200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:19728600-19748400	Weak transcription	Brain Substantia Nigra	brain
34	chr17:19728600-19748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:19728600-19749200	Weak transcription	Right Ventricle	heart
36	chr17:19728600-19756000	Weak transcription	HUVEC	blood vessel
37	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr17:19728800-19746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:19728800-19769400	Weak transcription	NHEK	skin
40	chr17:19729000-19745800	Weak transcription	Left Ventricle	heart
41	chr17:19729000-19748400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:19729000-19750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:19730000-19747400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:19732200-19744200	Strong transcription	Fetal Stomach	stomach
45	chr17:19732200-19751400	Strong transcription	Fetal Muscle Leg	muscle
46	chr17:19732200-19751600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:19733800-19747400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr17:19733800-19751400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr17:19733800-19752600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:19734000-19762800	Weak transcription	HMEC	breast

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