Variant report

Variant	nsv112179
Chromosome Location	chr17:60085398-60085678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60084305..60086239-chr17:60141726..60143519,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113030617	chr17:60085400-60085401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112037868	chr17:60085404-60085405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375910598	chr17:60085416-60085417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560703236	chr17:60085419-60085420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529677641	chr17:60085455-60085456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546280054	chr17:60085475-60085476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143726239	chr17:60085486-60085487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568771330	chr17:60085488-60085489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376340300	chr17:60085516-60085517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532523665	chr17:60085553-60085554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7210061	chr17:60085627-60085628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569498561	chr17:60085628-60085629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192446291	chr17:60085665-60085666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182480627	chr17:60085666-60085667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548891575	chr17:60085668-60085669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60059000-60088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60060400-60086800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:60060400-60088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:60060400-60090600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
12	chr17:60060400-60098800	Weak transcription	Gastric	stomach
13	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
14	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:60062400-60086400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
18	chr17:60067800-60086400	Weak transcription	HMEC	breast
19	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
20	chr17:60069400-60087000	Weak transcription	Left Ventricle	heart
21	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
22	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:60070200-60088000	Weak transcription	NHEK	skin
24	chr17:60070800-60086400	Weak transcription	Fetal Brain Female	brain
25	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:60072400-60087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
28	chr17:60074600-60088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
30	chr17:60074800-60086800	Weak transcription	HSMMtube	muscle
31	chr17:60074800-60087400	Weak transcription	Brain Angular Gyrus	brain
32	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:60075800-60086400	Weak transcription	Adipose Nuclei	Adipose
34	chr17:60075800-60086400	Weak transcription	NHDF-Ad	bronchial
35	chr17:60075800-60087600	Weak transcription	Brain Substantia Nigra	brain
36	chr17:60075800-60087600	Weak transcription	Fetal Heart	heart
37	chr17:60075800-60088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr17:60076000-60085800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:60076000-60087800	Weak transcription	NHLF	lung
41	chr17:60076200-60086800	Weak transcription	Brain Anterior Caudate	brain
42	chr17:60076200-60087400	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:60076200-60087600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
45	chr17:60077400-60088200	Weak transcription	Ovary	ovary
46	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:60078000-60086600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:60079000-60086800	Weak transcription	HUVEC	blood vessel
49	chr17:60079200-60085800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:60079800-60094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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