Variant report

Variant	esv1811047
Chromosome Location	chr17:20703343-20708705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20698627..20701345-chr17:20703321..20705574,3	K562	blood:
2	chr17:20704648..20705333-chr17:20895940..20896489,2	MCF-7	breast:
3	chr17:20678328..20679928-chr17:20703647..20705362,2	K562	blood:

Variant related genes	Relation type
ENSG00000213671	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs146875882	chr17:20703397-20703398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77503884	chr17:20703415-20703416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77805227	chr17:20703416-20703417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77861814	chr17:20703417-20703418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397801111	chr17:20703430-20703431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558354623	chr17:20703549-20703550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530614759	chr17:20703592-20703593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192538371	chr17:20703600-20703601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185650978	chr17:20703611-20703612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556139461	chr17:20703634-20703635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190177084	chr17:20703696-20703697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541899548	chr17:20703742-20703743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6587087	chr17:20703797-20703798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368494575	chr17:20703809-20703810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527809135	chr17:20703833-20703834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372893758	chr17:20703840-20703841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115940173	chr17:20703882-20703883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548150219	chr17:20703996-20703997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375827765	chr17:20704026-20704027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370871702	chr17:20704027-20704028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138234642	chr17:20704070-20704071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60220282	chr17:20704075-20704076	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374254481	chr17:20704122-20704123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562282422	chr17:20704123-20704124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376506731	chr17:20704170-20704171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529574060	chr17:20704186-20704187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547908313	chr17:20704192-20704193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566106654	chr17:20704222-20704223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528351418	chr17:20704230-20704231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181771109	chr17:20704236-20704237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185036238	chr17:20704278-20704279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371022819	chr17:20704302-20704303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75068946	chr17:20704316-20704317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79835973	chr17:20704319-20704320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574884902	chr17:20704409-20704410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188757861	chr17:20704557-20704558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139303510	chr17:20704559-20704560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
38	rs142669320	chr17:20704560-20704561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs62069318	chr17:20704561-20704562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs59355861	chr17:20704568-20704569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374423279	chr17:20704577-20704578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71357449	chr17:20704578-20704579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554223919	chr17:20704618-20704619	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181084248	chr17:20704641-20704642	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540786204	chr17:20704655-20704656	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201709477	chr17:20704693-20704694	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560786682	chr17:20704715-20704716	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572428442	chr17:20704716-20704717	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185341848	chr17:20704718-20704719	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189803356	chr17:20704767-20704768	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20687800-20705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:20702000-20705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:20703000-20703400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:20703200-20703800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:20704600-20705000	Enhancers	Hela-S3	cervix
6	chr17:20704600-20705600	Active TSS	A549	lung
7	chr17:20704800-20705000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:20704800-20705000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr17:20704800-20705200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr17:20704800-20705400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr17:20704800-20705400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr17:20704800-20705400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:20704800-20705600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr17:20704800-20705600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr17:20704800-20705600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr17:20704800-20705600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr17:20704800-20705600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:20704800-20705600	Active TSS	K562	blood
19	chr17:20705000-20705200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:20705000-20705200	Enhancers	Primary B cells from peripheral blood	blood
21	chr17:20705000-20705200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:20705000-20705200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:20705000-20705200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr17:20705000-20705400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr17:20705000-20705400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:20705000-20705400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:20705000-20705400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr17:20705000-20705400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:20705000-20705400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:20705000-20705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:20705000-20705400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:20705000-20705400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:20705000-20705400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr17:20705000-20705400	Active TSS	Placenta	Placenta
35	chr17:20705000-20705400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr17:20705200-20705400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:20705200-20705400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:20705400-20706600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:20705400-20706600	Weak transcription	Placenta	Placenta
40	chr17:20705400-20706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:20705400-20707000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:20705400-20718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:20706600-20707600	Enhancers	Primary B cells from peripheral blood	blood
44	chr17:20706600-20707600	Enhancers	Placenta	Placenta
45	chr17:20706800-20707400	Enhancers	Primary hematopoietic stem cells	blood
46	chr17:20706800-20707400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:20707000-20707400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:20707000-20707400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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