Variant report

Variant	nsv962232
Chromosome Location	chr17:15565399-15570341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15160810..15162326-chr17:15564040..15566649,2	K562	blood:
2	chr17:15565672..15568468-chr17:15583905..15586616,2	MCF-7	breast:
3	chr17:15561055..15565103-chr17:15565320..15567687,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221926	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs528045111	chr17:15565399-15565400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367836114	chr17:15565424-15565425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9909923	chr17:15565469-15565470	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs16964250	chr17:15565541-15565542	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531161634	chr17:15565598-15565599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149341080	chr17:15565606-15565607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78567719	chr17:15565639-15565640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571104090	chr17:15565676-15565677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189312362	chr17:15565715-15565716	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546934789	chr17:15565729-15565730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557305482	chr17:15565768-15565769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193222624	chr17:15565834-15565835	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573914521	chr17:15565862-15565863	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535428201	chr17:15565903-15565904	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555454444	chr17:15565919-15565920	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568990163	chr17:15565930-15565931	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1563011	chr17:15565952-15565953	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557112924	chr17:15566016-15566017	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576924703	chr17:15566018-15566019	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185651352	chr17:15566024-15566025	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552964394	chr17:15566031-15566032	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572893193	chr17:15566119-15566120	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541831808	chr17:15566127-15566128	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553201043	chr17:15566149-15566150	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561792935	chr17:15566177-15566178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575406487	chr17:15566219-15566220	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2159084	chr17:15566229-15566230	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188763609	chr17:15566240-15566241	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533314521	chr17:15566319-15566320	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181579586	chr17:15566423-15566424	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76782042	chr17:15566424-15566425	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145630382	chr17:15566437-15566438	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78900631	chr17:15566457-15566458	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572224291	chr17:15566483-15566484	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184471375	chr17:15566509-15566510	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188525119	chr17:15566510-15566511	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545496477	chr17:15566525-15566526	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1503130	chr17:15566579-15566580	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539224649	chr17:15566675-15566676	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561915150	chr17:15566687-15566688	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73978506	chr17:15566701-15566702	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565388234	chr17:15566765-15566766	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573150992	chr17:15566845-15566846	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535489103	chr17:15566846-15566847	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529116949	chr17:15566898-15566899	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138493174	chr17:15566953-15566954	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181276505	chr17:15566963-15566964	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143054133	chr17:15566964-15566965	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544296060	chr17:15566979-15566980	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77069432	chr17:15566998-15566999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15554600-15571200	Weak transcription	Liver	Liver
2	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:15555000-15587000	Weak transcription	Gastric	stomach
4	chr17:15555200-15567000	Weak transcription	Lung	lung
5	chr17:15555200-15567200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:15555400-15566800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:15555400-15567000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:15555400-15568200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:15555400-15568200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:15555400-15569000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr17:15555400-15576800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:15555400-15585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:15555400-15586600	Weak transcription	Brain Angular Gyrus	brain
15	chr17:15555400-15586600	Weak transcription	Thymus	Thymus
16	chr17:15555400-15587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:15555600-15565800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:15555600-15566400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:15555600-15566400	Weak transcription	NHLF	lung
20	chr17:15555600-15567000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:15555600-15586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:15555600-15586800	Weak transcription	NHDF-Ad	bronchial
23	chr17:15555600-15587000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:15555600-15587200	Weak transcription	Aorta	Aorta
25	chr17:15555800-15565800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:15556600-15587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:15558600-15565400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:15558800-15566000	Weak transcription	Osteobl	bone
29	chr17:15558800-15567000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:15558800-15567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:15558800-15567400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:15558800-15586600	Weak transcription	Brain Germinal Matrix	brain
33	chr17:15558800-15587000	Weak transcription	Ovary	ovary
34	chr17:15558800-15587000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:15558800-15587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:15559000-15565600	Weak transcription	Fetal Intestine Large	intestine
37	chr17:15559000-15566800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:15559000-15585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:15559400-15567000	Weak transcription	Fetal Intestine Small	intestine
40	chr17:15559400-15567600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:15559600-15566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:15560800-15566200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:15561800-15568600	Strong transcription	Fetal Brain Female	brain
44	chr17:15562600-15586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:15562800-15566400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr17:15563200-15565600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:15563200-15567400	Weak transcription	NH-A	brain
48	chr17:15563400-15565600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:15563400-15566000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:15563400-15566000	Weak transcription	Fetal Muscle Trunk	muscle

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