Variant report

Variant	esv3416710
Chromosome Location	chr17:16029677-16032075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:16031694-16031750	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:16031680-16031736	GM19238	blood:	n/a	n/a
3	CTCF	chr17:16031620-16031770	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr17:16031693-16031756	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:16031692-16031704	GM12892	blood:	n/a	n/a
6	GATA3	chr17:16031627-16032088	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:16031709-16031951	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:16031511-16031558	Gliobla	brain:	n/a	n/a
9	POLR2A	chr17:16031487-16031502	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:16030198-16030343	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:16031550-16031564	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:16029730-16029767	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr17:16031430-16031465	HepG2	liver:	n/a	n/a
14	RCOR1	chr17:16031751-16031856	K562	blood:	n/a	n/a
15	RUNX3	chr17:16030072-16030306	GM12878	blood:	n/a	n/a
16	RUNX3	chr17:16030009-16030299	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr17:16031530-16032026	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16025863..16027774-chr17:16028606..16031135,2	K562	blood:
2	chr17:16018918..16021715-chr17:16028326..16030856,2	K562	blood:

No data

Variant related genes	Relation type
NCOR1	TF binding region
ENSG00000141027	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568686114	chr17:16029691-16029692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375172501	chr17:16029698-16029699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547751446	chr17:16029710-16029711	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567995566	chr17:16029714-16029715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536438427	chr17:16029715-16029716	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556678564	chr17:16029718-16029719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537678628	chr17:16029747-16029748	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs180734025	chr17:16029767-16029768	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73981462	chr17:16029776-16029777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540265533	chr17:16029777-16029778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572458030	chr17:16029786-16029787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541445982	chr17:16029815-16029816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117882794	chr17:16029837-16029838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573835798	chr17:16029856-16029857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542558774	chr17:16029927-16029928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562312182	chr17:16029960-16029961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531416590	chr17:16030007-16030008	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544687921	chr17:16030096-16030097	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185251456	chr17:16030172-16030173	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143046491	chr17:16030183-16030184	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200725455	chr17:16030233-16030234	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190035735	chr17:16030286-16030287	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11655773	chr17:16030299-16030300	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs530373760	chr17:16030327-16030328	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550230844	chr17:16030341-16030342	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570231304	chr17:16030351-16030352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539273009	chr17:16030365-16030366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559075315	chr17:16030366-16030367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181900989	chr17:16030414-16030415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62073626	chr17:16030421-16030422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113852779	chr17:16030422-16030423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139112489	chr17:16030423-16030424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77452034	chr17:16030424-16030425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76508774	chr17:16030425-16030426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397703538	chr17:16030428-16030429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371014830	chr17:16030429-16030430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374591662	chr17:16030433-16030434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535019433	chr17:16030454-16030455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113394588	chr17:16030460-16030461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554900251	chr17:16030464-16030465	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574760830	chr17:16030467-16030468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536510334	chr17:16030478-16030479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556072470	chr17:16030485-16030486	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34243080	chr17:16030490-16030491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs376493615	chr17:16030496-16030497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs60101637	chr17:16030497-16030498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544849749	chr17:16030501-16030502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564628890	chr17:16030504-16030505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537031580	chr17:16030513-16030514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs57484837	chr17:16030517-16030518	Weak transcription Strong transcription	Chromatin interactive region	1 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
Multiple myeloma	17550852	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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
early-passage human iPS cells	21368824	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

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:16005000-16038600	Weak transcription	Stomach Mucosa	stomach
4	chr17:16006600-16064200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr17:16014400-16029800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:16015400-16030400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:16015400-16031800	Strong transcription	Fetal Intestine Large	intestine
8	chr17:16015600-16077600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:16015800-16064400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:16016400-16029800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:16016400-16064200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:16016800-16048800	Strong transcription	Adipose Nuclei	Adipose
13	chr17:16017000-16039600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr17:16017200-16030400	Strong transcription	Osteobl	bone
15	chr17:16017200-16064200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:16017600-16036000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:16018600-16033800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:16018600-16037600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:16018600-16037600	Weak transcription	Right Ventricle	heart
20	chr17:16018600-16054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:16018800-16029800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:16018800-16032600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr17:16019400-16040200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:16019400-16070400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr17:16019600-16029800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr17:16019600-16042200	Strong transcription	Primary B cells from cord blood	blood
27	chr17:16019800-16056800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:16020200-16042600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr17:16020200-16064200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:16020400-16034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:16020400-16034000	Strong transcription	A549	lung
32	chr17:16020400-16044000	Strong transcription	Dnd41	blood
33	chr17:16020400-16056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr17:16020600-16031400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:16020800-16033200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr17:16020800-16051400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:16021200-16030400	Strong transcription	Liver	Liver
38	chr17:16021400-16042800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:16021600-16049800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:16021800-16031200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:16021800-16087600	Weak transcription	Fetal Brain Male	brain
42	chr17:16022000-16031000	Weak transcription	K562	blood
43	chr17:16022200-16031600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:16022200-16058400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr17:16022400-16037600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:16023200-16031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:16023400-16038600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:16023600-16031200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:16023600-16033000	Weak transcription	Pancreas	Pancrea
50	chr17:16023600-16038600	Weak transcription	Brain Cingulate Gyrus	brain

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