Variant report

Variant	nsv512478
Chromosome Location	chr17:15861087-15864603
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
2	chr17:15847630..15850213-chr17:15861016..15863900,2	K562	blood:
3	chr17:15855716..15858528-chr17:15860406..15862714,2	MCF-7	breast:
4	chr17:15850283..15852272-chr17:15862525..15865065,2	K562	blood:
5	chr17:15848713..15850591-chr17:15862400..15865313,2	K562	blood:
6	chr17:15860784..15862668-chr17:15867479..15869134,2	MCF-7	breast:
7	chr17:15852422..15855230-chr17:15859382..15862010,2	MCF-7	breast:
8	chr17:15856750..15859514-chr17:15860824..15862643,2	K562	blood:
9	chr17:15861872..15863395-chr17:15873905..15875556,2	K562	blood:
10	chr17:15847638..15850175-chr17:15861024..15863509,3	MCF-7	breast:
11	chr17:15860952..15862454-chr17:15899696..15901427,2	K562	blood:
12	chr17:15861872..15864251-chr17:15873905..15876165,2	K562	blood:
13	chr17:15861172..15863617-chr17:15879746..15882543,3	K562	blood:
14	chr17:15859179..15862826-chr17:15901862..15905162,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214941	chromatin interactions
ENSG00000170425	chromatin interactions
ENSG00000011295	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs530664560	chr17:15861101-15861102	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs137968002	chr17:15861107-15861108	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564034203	chr17:15861112-15861113	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs72821748	chr17:15861125-15861126	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546301365	chr17:15861141-15861142	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs566504026	chr17:15861146-15861147	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536139816	chr17:15861220-15861221	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113803163	chr17:15861237-15861238	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569472407	chr17:15861246-15861247	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538446918	chr17:15861270-15861271	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558192510	chr17:15861271-15861272	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571668311	chr17:15861288-15861289	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200259018	chr17:15861331-15861332	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs368791965	chr17:15861332-15861333	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553863120	chr17:15861334-15861335	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs185947000	chr17:15861347-15861348	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149053601	chr17:15861353-15861354	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555245358	chr17:15861385-15861386	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs80206988	chr17:15861387-15861388	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542780978	chr17:15861410-15861411	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182915947	chr17:15861413-15861414	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2779201	chr17:15861418-15861419	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564178883	chr17:15861436-15861437	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143048593	chr17:15861486-15861487	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs2779202	chr17:15861491-15861492	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560181324	chr17:15861503-15861504	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372606831	chr17:15861522-15861523	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2535612	chr17:15861563-15861564	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146260302	chr17:15861584-15861585	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550709932	chr17:15861605-15861606	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561597104	chr17:15861606-15861607	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138038216	chr17:15861611-15861612	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188365977	chr17:15861612-15861613	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566749415	chr17:15861617-15861618	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551658384	chr17:15861694-15861695	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs571841781	chr17:15861729-15861730	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs534024566	chr17:15861737-15861738	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs141719828	chr17:15861739-15861740	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539589468	chr17:15861784-15861785	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs61478648	chr17:15861789-15861790	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536254711	chr17:15861823-15861824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555208462	chr17:15861844-15861845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368673436	chr17:15861860-15861861	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs111382748	chr17:15861895-15861896	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs544523650	chr17:15861913-15861914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs557653496	chr17:15861917-15861918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs59445662	chr17:15861921-15861922	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539949766	chr17:15861924-15861925	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs560294680	chr17:15861961-15861962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs528855388	chr17:15862063-15862064	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15851000-15862200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:15851200-15861800	Weak transcription	NHLF	lung
3	chr17:15851200-15869600	Weak transcription	Gastric	stomach
4	chr17:15851400-15861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:15852200-15861800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:15852200-15861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:15853400-15861800	Genic enhancers	NHEK	skin
8	chr17:15855400-15861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
10	chr17:15856400-15861800	Enhancers	NHDF-Ad	bronchial
11	chr17:15857200-15866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:15857800-15861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:15858000-15861800	Weak transcription	Placenta	Placenta
14	chr17:15858000-15868200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:15858200-15861800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:15858800-15861800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr17:15859200-15861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:15859200-15862200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr17:15859200-15862200	Enhancers	A549	lung
20	chr17:15859200-15862200	Enhancers	Hela-S3	cervix
21	chr17:15859200-15862400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr17:15859200-15864000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:15859400-15861600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr17:15859400-15861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:15859400-15862200	Enhancers	NH-A	brain
26	chr17:15859400-15862600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr17:15859600-15862200	Enhancers	HUVEC	blood vessel
28	chr17:15859600-15863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:15859800-15861800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:15859800-15861800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:15859800-15861800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr17:15859800-15861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:15859800-15861800	Weak transcription	HepG2	liver
34	chr17:15859800-15861800	Enhancers	K562	blood
35	chr17:15859800-15862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:15860000-15861800	Weak transcription	Fetal Thymus	thymus
37	chr17:15860000-15862000	Weak transcription	HSMMtube	muscle
38	chr17:15860000-15868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:15860200-15862000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:15860200-15862800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr17:15860400-15861200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:15860400-15861200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:15860400-15861800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:15860400-15861800	Enhancers	GM12878-XiMat	blood
45	chr17:15860600-15861600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:15860600-15862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:15860600-15862800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr17:15860600-15863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:15860800-15861600	Weak transcription	Osteobl	bone
50	chr17:15860800-15861800	Weak transcription	Stomach Mucosa	stomach

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