Variant report

Variant	esv1796880
Chromosome Location	chr17:15764507-15793669
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15780272..15782424-chr17:15786424..15788157,2	K562	blood:
2	chr17:15786537..15789462-chr17:15796062..15797687,2	MCF-7	breast:
3	chr17:15791535..15794057-chr17:15795691..15797755,2	MCF-7	breast:
4	chr17:15791472..15794195-chr17:15796023..15798848,3	K562	blood:
5	chr17:15780272..15782424-chr17:15786424..15788157,2	K562	blood:
6	chr17:15782611..15786264-chr17:15794710..15797679,3	MCF-7	breast:
7	chr17:15787293..15789868-chr17:15796195..15798125,2	K562	blood:
8	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:
9	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM7-7	chr17:15788959-15789222	predAs_ge08_ADORA2B_1

No data

Extended variants
information (count: 1151 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578065	chr17:15764507-15764508	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs397834385	chr17:15764527-15764528	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560582840	chr17:15764530-15764531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112250990	chr17:15764577-15764578	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571921437	chr17:15764591-15764592	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149864113	chr17:15764612-15764613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554345905	chr17:15764631-15764632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543733911	chr17:15764635-15764636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573755429	chr17:15764657-15764658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186155220	chr17:15764705-15764706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556285335	chr17:15764791-15764792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576006285	chr17:15764813-15764814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145841256	chr17:15764890-15764891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564191455	chr17:15764907-15764908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577891372	chr17:15764914-15764915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373456397	chr17:15764926-15764927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560400733	chr17:15764988-15764989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9904135	chr17:15765016-15765017	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs529452858	chr17:15765027-15765028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549099072	chr17:15765099-15765100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577182855	chr17:15765112-15765113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562602370	chr17:15765143-15765144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs517539	chr17:15765170-15765171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531171283	chr17:15765229-15765230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549513339	chr17:15765242-15765243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551376524	chr17:15765258-15765259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148982669	chr17:15765289-15765290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190130600	chr17:15765317-15765318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs515832	chr17:15765322-15765323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs515822	chr17:15765331-15765332	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567516476	chr17:15765339-15765340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs514962	chr17:15765407-15765408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144361853	chr17:15765445-15765446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146701016	chr17:15765475-15765476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538630032	chr17:15765480-15765481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs514780	chr17:15765481-15765482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558915002	chr17:15765517-15765518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371019172	chr17:15765524-15765525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373024433	chr17:15765526-15765527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28604277	chr17:15765530-15765531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56256939	chr17:15765531-15765532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577821476	chr17:15765535-15765536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs513190	chr17:15765591-15765592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs58711104	chr17:15765608-15765609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs513076	chr17:15765627-15765628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137909713	chr17:15765630-15765631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573861557	chr17:15765660-15765661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71358373	chr17:15765719-15765720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542855866	chr17:15765776-15765777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140659663	chr17:15765791-15765792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15762400-15765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:15764400-15764600	Flanking Active TSS	GM12878-XiMat	blood
3	chr17:15764600-15765000	ZNF genes & repeats	GM12878-XiMat	blood
4	chr17:15765000-15765400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:15765400-15773800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:15772800-15773000	Enhancers	Placenta	Placenta
7	chr17:15773200-15775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:15773400-15774200	Weak transcription	Placenta	Placenta
9	chr17:15773800-15774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:15774000-15775400	Enhancers	Fetal Heart	heart
11	chr17:15774200-15774400	Enhancers	Fetal Stomach	stomach
12	chr17:15774200-15774600	Enhancers	Placenta	Placenta
13	chr17:15774400-15774600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15774600-15774800	Weak transcription	Placenta	Placenta
15	chr17:15774600-15775200	Enhancers	Fetal Intestine Small	intestine
16	chr17:15774800-15775200	Enhancers	Placenta	Placenta
17	chr17:15775000-15775200	Enhancers	Fetal Stomach	stomach
18	chr17:15775000-15775600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:15775600-15785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:15776000-15776400	Enhancers	Hela-S3	cervix
21	chr17:15780600-15781400	Enhancers	HMEC	breast
22	chr17:15780600-15781800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:15780800-15782000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:15781000-15781400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:15781000-15781400	Enhancers	NHEK	skin
26	chr17:15781000-15781800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:15781200-15781600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:15781200-15781600	Enhancers	Fetal Heart	heart
29	chr17:15781200-15781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:15781800-15785200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:15782000-15782400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:15782400-15782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:15782600-15799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:15783000-15785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:15784200-15790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:15784800-15787200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:15785200-15786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:15785400-15785600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:15785400-15785600	Enhancers	HepG2	liver
40	chr17:15785400-15785800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:15785400-15786200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:15785600-15785800	Enhancers	Fetal Muscle Leg	muscle
43	chr17:15785600-15786000	Flanking Active TSS	HepG2	liver
44	chr17:15785600-15787600	Enhancers	HSMMtube	muscle
45	chr17:15785800-15786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:15785800-15787600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:15785800-15790000	Weak transcription	Fetal Muscle Leg	muscle
48	chr17:15786000-15786200	Enhancers	HepG2	liver
49	chr17:15786000-15786400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:15786200-15786400	Enhancers	NHDF-Ad	bronchial

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