Variant report

Variant	esv1010969
Chromosome Location	chr17:17304118-17308747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17304591..17306249-chr17:17306462..17308766,2	MCF-7	breast:
2	chr17:17304304..17307291-chr17:17324984..17326746,2	K562	blood:
3	chr17:17297235..17298837-chr17:17306470..17308847,2	K562	blood:
4	chr17:17303519..17305319-chr17:17347425..17348955,2	MCF-7	breast:
5	chr17:17303349..17305790-chr17:17309231..17310797,2	MCF-7	breast:
6	chr17:17299943..17302220-chr17:17305018..17306768,2	K562	blood:
7	chr17:17305801..17308448-chr17:17312032..17314293,2	K562	blood:
8	chr17:17298469..17300078-chr17:17302432..17304421,2	K562	blood:
9	chr17:17306217..17309179-chr17:17398363..17401256,2	MCF-7	breast:
10	chr17:17293918..17295696-chr17:17303965..17305764,2	K562	blood:
11	chr17:17304591..17306249-chr17:17306462..17308766,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108551	chromatin interactions
ENSG00000227158	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564824182	chr17:17304118-17304119	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs376585582	chr17:17304154-17304155	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs547196151	chr17:17304177-17304178	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs187459011	chr17:17304205-17304206	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs139480827	chr17:17304254-17304255	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs549642562	chr17:17304270-17304271	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs569267617	chr17:17304271-17304272	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs531606649	chr17:17304276-17304277	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs574256170	chr17:17304277-17304278	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs144209269	chr17:17304278-17304279	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538800701	chr17:17304296-17304297	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs146078319	chr17:17304298-17304299	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113983832	chr17:17304314-17304315	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554432182	chr17:17304315-17304316	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376523582	chr17:17304348-17304349	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567841428	chr17:17304374-17304375	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148743509	chr17:17304401-17304402	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556885478	chr17:17304459-17304460	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576033229	chr17:17304477-17304478	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111303253	chr17:17304497-17304498	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142367844	chr17:17304523-17304524	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562759439	chr17:17304568-17304569	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558484671	chr17:17304573-17304574	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572062690	chr17:17304625-17304626	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576469423	chr17:17304679-17304680	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150977696	chr17:17304685-17304686	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72826255	chr17:17304724-17304725	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191177323	chr17:17304737-17304738	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144477749	chr17:17304758-17304759	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115016402	chr17:17304775-17304776	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551500683	chr17:17304807-17304808	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571592161	chr17:17304826-17304827	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527817505	chr17:17304827-17304828	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533439751	chr17:17304835-17304836	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567900497	chr17:17304851-17304852	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374289282	chr17:17304853-17304854	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147852566	chr17:17304891-17304892	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141074109	chr17:17304892-17304893	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376397147	chr17:17304911-17304912	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545546294	chr17:17304949-17304950	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183214837	chr17:17304965-17304966	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78160501	chr17:17304998-17304999	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558289847	chr17:17305049-17305050	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571984873	chr17:17305063-17305064	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75334985	chr17:17305074-17305075	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554233191	chr17:17305096-17305097	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575916659	chr17:17305167-17305168	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187857127	chr17:17305185-17305186	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553922988	chr17:17305206-17305207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564258031	chr17:17305230-17305231	Enhancers Weak transcription	Chromatin interactive region	1 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
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

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17296000-17304600	Weak transcription	Gastric	stomach
2	chr17:17296400-17305600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17296600-17305600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:17296600-17305800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17296600-17306200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:17297200-17306600	Enhancers	Dnd41	blood
7	chr17:17298600-17306800	Enhancers	Fetal Thymus	thymus
8	chr17:17299200-17305800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:17299600-17304600	Weak transcription	Pancreas	Pancrea
10	chr17:17299800-17310400	Enhancers	Primary hematopoietic stem cells	blood
11	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:17301400-17306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17301400-17307000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr17:17301400-17307000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:17301600-17306800	Enhancers	Thymus	Thymus
17	chr17:17301800-17305800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:17302000-17304600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:17302000-17304600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
21	chr17:17302200-17305600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:17302200-17307400	Weak transcription	Brain Anterior Caudate	brain
23	chr17:17302400-17305800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:17302400-17305800	Weak transcription	NH-A	brain
25	chr17:17302400-17306600	Weak transcription	Fetal Lung	lung
26	chr17:17302400-17306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:17302800-17304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:17302800-17304600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:17302800-17304600	Weak transcription	HSMM	muscle
30	chr17:17302800-17304800	Weak transcription	NHLF	lung
31	chr17:17302800-17305200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:17303000-17304200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr17:17303000-17304400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr17:17303000-17304400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:17303000-17306000	Weak transcription	Primary B cells from cord blood	blood
36	chr17:17303200-17304200	Weak transcription	Hela-S3	cervix
37	chr17:17303200-17304200	Weak transcription	NHDF-Ad	bronchial
38	chr17:17303200-17304400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:17303200-17304400	Weak transcription	Osteobl	bone
40	chr17:17303200-17304600	Weak transcription	Right Ventricle	heart
41	chr17:17303200-17304800	Weak transcription	Left Ventricle	heart
42	chr17:17303200-17305000	Weak transcription	Brain Germinal Matrix	brain
43	chr17:17303200-17305000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr17:17303200-17306800	Weak transcription	Lung	lung
45	chr17:17303200-17307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:17303600-17306800	Weak transcription	Adipose Nuclei	Adipose
47	chr17:17303800-17304600	Bivalent Enhancer	HepG2	liver
48	chr17:17303800-17304800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:17304000-17305600	Weak transcription	Primary T cells from cord blood	blood
50	chr17:17304200-17304400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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