Variant report

Variant	esv1805668
Chromosome Location	chr17:15786573-15792883
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

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

(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: 220 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs9903817	chr17:15786573-15786574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs372324881	chr17:15786599-15786600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548223733	chr17:15786630-15786631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143497794	chr17:15786631-15786632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531228840	chr17:15786639-15786640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181053382	chr17:15786689-15786690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570985395	chr17:15786716-15786717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576825256	chr17:15786721-15786722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77240510	chr17:15786742-15786743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371797666	chr17:15786753-15786754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547045857	chr17:15786756-15786757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566870523	chr17:15786772-15786773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541111362	chr17:15786825-15786826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535591140	chr17:15786832-15786833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552697871	chr17:15786838-15786839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376930133	chr17:15786864-15786865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368038890	chr17:15786902-15786903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575279172	chr17:15786918-15786919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185540583	chr17:15786964-15786965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118144106	chr17:15786969-15786970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190753283	chr17:15786986-15786987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374962393	chr17:15787047-15787048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62072173	chr17:15787052-15787053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147982701	chr17:15787056-15787057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1797463	chr17:15787087-15787088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116283667	chr17:15787156-15787157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561659101	chr17:15787163-15787164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181548723	chr17:15787215-15787216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186157404	chr17:15787216-15787217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564648557	chr17:15787219-15787220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142311617	chr17:15787320-15787321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190133287	chr17:15787323-15787324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567084434	chr17:15787343-15787344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572290157	chr17:15787345-15787346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181296769	chr17:15787362-15787363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28680408	chr17:15787373-15787374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577004189	chr17:15787378-15787379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537850516	chr17:15787452-15787453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568133805	chr17:15787458-15787459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557191017	chr17:15787498-15787499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185932049	chr17:15787514-15787515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539755255	chr17:15787571-15787572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563045990	chr17:15787623-15787624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35621066	chr17:15787633-15787634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10714705	chr17:15787711-15787712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573116024	chr17:15787719-15787720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146034548	chr17:15787742-15787743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190753709	chr17:15787746-15787747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575285780	chr17:15787747-15787748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541781420	chr17:15787809-15787810	Weak transcription Enhancers	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15782600-15799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:15784200-15790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:15784800-15787200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:15785600-15787600	Enhancers	HSMMtube	muscle
5	chr17:15785800-15786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:15785800-15787600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:15785800-15790000	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:15786400-15789200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:15786400-15789200	Weak transcription	NHDF-Ad	bronchial
10	chr17:15786400-15790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:15786600-15787000	Enhancers	Aorta	Aorta
12	chr17:15786800-15787000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:15786800-15788000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr17:15786800-15790000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr17:15787000-15787600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15787000-15787600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr17:15787200-15787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:15787200-15787600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:15787200-15790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:15787400-15787600	Enhancers	K562	blood
21	chr17:15787400-15788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:15787600-15789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:15787600-15790200	Weak transcription	HMEC	breast
24	chr17:15787600-15794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:15787600-15795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:15787600-15796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:15788000-15789200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:15788000-15789200	Weak transcription	K562	blood
29	chr17:15788200-15788400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:15788400-15789200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15789000-15789600	Enhancers	HUVEC	blood vessel
32	chr17:15789000-15790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:15789200-15789400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:15789200-15789600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:15789200-15789600	Enhancers	NHDF-Ad	bronchial
36	chr17:15789200-15790400	Enhancers	GM12878-XiMat	blood
37	chr17:15789200-15790600	Enhancers	K562	blood
38	chr17:15789200-15791000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr17:15789200-15791000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:15789200-15791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:15789400-15789600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:15789400-15790600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:15789400-15796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:15789600-15790000	Enhancers	NHEK	skin
45	chr17:15789600-15790400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:15789600-15790800	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:15789600-15790800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr17:15789600-15796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:15789800-15790600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr17:15789800-15790600	Enhancers	Fetal Muscle Trunk	muscle

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