Variant report

Variant	nsv960192
Chromosome Location	chr17:15856207-15867176
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15856750..15859514-chr17:15860824..15862643,2	K562	blood:
2	chr17:15855716..15858528-chr17:15860406..15862714,2	MCF-7	breast:
3	chr17:15852422..15855230-chr17:15859382..15862010,2	MCF-7	breast:
4	chr17:15859179..15862826-chr17:15901862..15905162,4	MCF-7	breast:
5	chr17:15861872..15864251-chr17:15873905..15876165,2	K562	blood:
6	chr17:15854395..15858152-chr17:15900264..15903071,3	K562	blood:
7	chr17:15861872..15863395-chr17:15873905..15875556,2	K562	blood:
8	chr17:15860952..15862454-chr17:15899696..15901427,2	K562	blood:
9	chr17:15864704..15867341-chr17:15873793..15875461,2	K562	blood:
10	chr17:15855716..15858528-chr17:15860406..15862714,2	MCF-7	breast:
11	chr17:15866407..15869569-chr17:15884863..15887251,3	K562	blood:
12	chr17:15848713..15850591-chr17:15862400..15865313,2	K562	blood:
13	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
14	chr17:15856750..15859514-chr17:15860824..15862643,2	K562	blood:
15	chr17:15847638..15850175-chr17:15861024..15863509,3	MCF-7	breast:
16	chr17:15860784..15862668-chr17:15867479..15869134,2	MCF-7	breast:
17	chr17:15850283..15852272-chr17:15862525..15865065,2	K562	blood:
18	chr17:15847630..15850213-chr17:15861016..15863900,2	K562	blood:
19	chr17:15861172..15863617-chr17:15879746..15882543,3	K562	blood:

No data

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

Extended variants
information (count: 491 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4791656	chr17:15856241-15856242	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555481087	chr17:15856261-15856262	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571807265	chr17:15856325-15856326	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534130834	chr17:15856326-15856327	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554194890	chr17:15856328-15856329	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571808997	chr17:15856329-15856330	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139034803	chr17:15856410-15856411	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78672675	chr17:15856438-15856439	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556115663	chr17:15856468-15856469	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576061079	chr17:15856519-15856520	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376417365	chr17:15856549-15856550	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564088046	chr17:15856609-15856610	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79832074	chr17:15856615-15856616	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2535608	chr17:15856649-15856650	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577496566	chr17:15856718-15856719	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2535609	chr17:15856740-15856741	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs144101649	chr17:15856748-15856749	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542774012	chr17:15856754-15856755	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2779199	chr17:15856778-15856779	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2535610	chr17:15856786-15856787	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75419948	chr17:15856815-15856816	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571854322	chr17:15856855-15856856	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376942891	chr17:15856863-15856864	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs79990008	chr17:15856887-15856888	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547694971	chr17:15856889-15856890	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567875412	chr17:15856912-15856913	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148668728	chr17:15856921-15856922	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556278931	chr17:15856940-15856941	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559752857	chr17:15856954-15856955	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111761830	chr17:15856959-15856960	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569713676	chr17:15857003-15857004	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538652032	chr17:15857010-15857011	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557991596	chr17:15857048-15857049	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4791657	chr17:15857068-15857069	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528619424	chr17:15857106-15857107	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540397161	chr17:15857123-15857124	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs530419700	chr17:15857159-15857160	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192749699	chr17:15857160-15857161	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538772984	chr17:15857237-15857238	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375395253	chr17:15857238-15857239	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182698669	chr17:15857243-15857244	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115375705	chr17:15857258-15857259	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562571258	chr17:15857275-15857276	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111364778	chr17:15857297-15857298	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375684686	chr17:15857303-15857304	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74797579	chr17:15857311-15857312	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368194298	chr17:15857327-15857328	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143346753	chr17:15857331-15857332	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111310489	chr17:15857337-15857338	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112341714	chr17:15857378-15857379	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 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:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15849600-15860600	Weak transcription	Pancreas	Pancrea
2	chr17:15850200-15859200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:15850200-15860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:15850400-15856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:15851000-15859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:15851000-15862200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:15851200-15856400	Weak transcription	NHDF-Ad	bronchial
8	chr17:15851200-15861800	Weak transcription	NHLF	lung
9	chr17:15851200-15869600	Weak transcription	Gastric	stomach
10	chr17:15851400-15857000	Weak transcription	HSMM	muscle
11	chr17:15851400-15857000	Weak transcription	Osteobl	bone
12	chr17:15851400-15859400	Weak transcription	HSMMtube	muscle
13	chr17:15851400-15861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:15851600-15856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:15852000-15857000	Weak transcription	NH-A	brain
16	chr17:15852000-15857400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr17:15852000-15859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:15852000-15860400	Weak transcription	Lung	lung
19	chr17:15852200-15857200	Weak transcription	Hela-S3	cervix
20	chr17:15852200-15858200	Weak transcription	HepG2	liver
21	chr17:15852200-15859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:15852200-15860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:15852200-15861000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:15852200-15861800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:15852200-15861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:15852800-15859200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:15853000-15856400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:15853400-15857800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:15853400-15861800	Genic enhancers	NHEK	skin
30	chr17:15854000-15857200	Enhancers	Fetal Intestine Large	intestine
31	chr17:15854400-15856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:15854600-15860600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:15854800-15857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:15854800-15857600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr17:15854800-15861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:15855000-15856400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:15855000-15857000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:15855000-15857200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr17:15855000-15857600	Weak transcription	Placenta	Placenta
40	chr17:15855000-15860000	Weak transcription	Esophagus	oesophagus
41	chr17:15855200-15857600	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:15855200-15859600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:15855400-15861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:15855600-15856400	Enhancers	Stomach Mucosa	stomach
45	chr17:15855800-15857200	Genic enhancers	HMEC	breast
46	chr17:15855800-15859200	Weak transcription	K562	blood
47	chr17:15855800-15859800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
49	chr17:15856000-15860800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr17:15856200-15856400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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