Variant report

Variant	nsv543254
Chromosome Location	chr17:19515267-19527596
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	CBX3	chr17:19522971-19523710	HCT-116	colon:	n/a	n/a
2	CTCF	chr17:19518340-19518490	HCPEpiC	choroid plexus:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
3	CTCF	chr17:19518362-19518530	GM12878	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
4	CTCF	chr17:19518339-19518481	GM12878	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
5	CTCF	chr17:19518263-19518536	A549	lung:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
6	CTCF	chr17:19518260-19518410	Caco-2	colon:	n/a	n/a
7	CTCF	chr17:19518351-19518498	H1-hESC	embryonic stem cell:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
8	CTCF	chr17:19518300-19518450	HepG2	liver:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
9	CTCF	chr17:19518280-19518430	GM12878	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
10	CTCF	chr17:19518340-19518490	BE2_C	brain:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
11	CTCF	chr17:19518287-19518489	H1-hESC	embryonic stem cell:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
12	CTCF	chr17:19518338-19518484	HepG2	liver:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
13	CTCF	chr17:19522660-19522810	GM12871	blood:	n/a	n/a
14	CTCF	chr17:19518360-19518510	NHDF-neo	bronchial:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
15	CTCF	chr17:19518365-19518461	GM12891	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
16	CTCF	chr17:19518391-19518427	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
17	CTCF	chr17:19518340-19518490	AG09319	gingival:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
18	CTCF	chr17:19518359-19518473	GM19238	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
19	CTCF	chr17:19518300-19518450	GM12864	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
20	CTCF	chr17:19518380-19518444	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
21	CTCF	chr17:19518240-19518390	A549	lung:	n/a	n/a
22	CTCF	chr17:19518300-19518450	GM12865	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
23	CTCF	chr17:19518340-19518490	GM12867	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
24	CTCF	chr17:19518373-19518452	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
25	CTCF	chr17:19518300-19518450	GM12866	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
26	CTCF	chr17:19518356-19518447	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
27	CTCF	chr17:19518420-19518570	HMF	breast:	n/a	n/a
28	CTCF	chr17:19518320-19518470	GM12864	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
29	CTCF	chr17:19518334-19518482	Hela-S3	cervix:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
30	CTCF	chr17:19518320-19518470	GM12865	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
31	CTCF	chr17:19518360-19518510	GM12871	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
32	CTCF	chr17:19518280-19518430	GM12875	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
33	CTCF	chr17:19518320-19518470	WERI-Rb-1	eye:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
34	CTCF	chr17:19518381-19518438	A549	lung:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
35	CTCF	chr17:19518360-19518510	HPAF	blood vessel:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
36	CTCF	chr17:19518340-19518490	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
37	CTCF	chr17:19518360-19518510	Caco-2	colon:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
38	CTCF	chr17:19518340-19518490	HEK293	kidney:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
39	CTCF	chr17:19518322-19518485	HepG2	liver:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
40	CTCF	chr17:19518320-19518470	HRE	kidney:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
41	CTCF	chr17:19518300-19518450	GM12869	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
42	CTCF	chr17:19518240-19518390	GM12872	blood:	n/a	n/a
43	CTCF	chr17:19518340-19518490	NB4	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
44	CTCF	chr17:19518280-19518430	HBMEC	blood vessel:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
45	CTCF	chr17:19518360-19518510	Hela-S3	cervix:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
46	CTCF	chr17:19518280-19518430	HCT-116	colon:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
47	CTCF	chr17:19518260-19518410	GM06990	blood:	n/a	n/a
48	CTCF	chr17:19518360-19518454	MCF-7	breast:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
49	CTCF	chr17:19518340-19518490	HepG2	liver:	n/a	chr17:19518410-19518419 chr17:19518409-19518422
50	CTCF	chr17:19518340-19518490	GM12872	blood:	n/a	chr17:19518410-19518419 chr17:19518409-19518422

Variant related genes	Relation type
ENSG00000231625	TF binding region

Extended variants
information (count: 306 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145486326	chr17:19515305-19515306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28672208	chr17:19515344-19515345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551482252	chr17:19515408-19515409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192782111	chr17:19515415-19515416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183829704	chr17:19515443-19515444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188163300	chr17:19515559-19515560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533050266	chr17:19515593-19515594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548007194	chr17:19515689-19515690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11650399	chr17:19515695-19515696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs111572638	chr17:19515709-19515710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537473615	chr17:19515740-19515741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56822969	chr17:19515745-19515746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138114789	chr17:19515755-19515756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142705753	chr17:19515773-19515774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567451470	chr17:19515867-19515868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537370165	chr17:19515882-19515883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557513616	chr17:19515953-19515954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150509195	chr17:19516016-19516017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539541145	chr17:19516042-19516043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553053481	chr17:19516056-19516057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78569838	chr17:19516085-19516086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75492580	chr17:19516087-19516088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572861044	chr17:19516140-19516141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12604069	chr17:19516216-19516217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs138357626	chr17:19516239-19516240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575480856	chr17:19516278-19516279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544221764	chr17:19516287-19516288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369990383	chr17:19516391-19516392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564303730	chr17:19516494-19516495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149248138	chr17:19516500-19516501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144479439	chr17:19516566-19516567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560308672	chr17:19516778-19516779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34304734	chr17:19516786-19516787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534846189	chr17:19516864-19516865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548944668	chr17:19516874-19516875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572217418	chr17:19517054-19517055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568792110	chr17:19517065-19517066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576296356	chr17:19517146-19517147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531223336	chr17:19517172-19517173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377698526	chr17:19517173-19517174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534568183	chr17:19517238-19517239	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558055452	chr17:19517332-19517333	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570663869	chr17:19517352-19517353	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539654555	chr17:19517406-19517407	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs553014703	chr17:19517407-19517408	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566644451	chr17:19517423-19517424	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs139585788	chr17:19517433-19517434	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555724697	chr17:19517451-19517452	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575596528	chr17:19517470-19517471	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553303854	chr17:19517471-19517472	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:155)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
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
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
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
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19499800-19519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:19509000-19515600	Weak transcription	A549	lung
3	chr17:19513400-19515800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:19515000-19515800	Enhancers	GM12878-XiMat	blood
5	chr17:19515000-19518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr17:19515600-19515800	Enhancers	A549	lung
7	chr17:19515800-19516800	Weak transcription	A549	lung
8	chr17:19516400-19517800	Enhancers	Rectal Smooth Muscle	rectum
9	chr17:19516800-19517200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:19516800-19517200	Enhancers	A549	lung
11	chr17:19517000-19517400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr17:19517000-19517600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:19517000-19517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:19517200-19517800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:19517200-19517800	Enhancers	Ovary	ovary
16	chr17:19517200-19520800	Weak transcription	Liver	Liver
17	chr17:19517400-19517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:19517400-19517600	Enhancers	Stomach Smooth Muscle	stomach
19	chr17:19517400-19517800	Enhancers	Colon Smooth Muscle	Colon
20	chr17:19518800-19519200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:19519000-19519200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:19519000-19519200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:19520800-19521600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr17:19520800-19523600	ZNF genes & repeats	Liver	Liver
25	chr17:19521200-19523600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:19521400-19524400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:19521600-19523400	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr17:19522000-19523200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr17:19522400-19523200	ZNF genes & repeats	A549	lung
30	chr17:19525400-19538800	Weak transcription	Ovary	ovary

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