Variant report

Variant	esv3328975
Chromosome Location	chr17:63176386-63176819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63169209..63171609-chr17:63173762..63176573,2	MCF-7	breast:
2	chr17:63167995..63174174-chr17:63174484..63177820,5	MCF-7	breast:
3	chr17:63166945..63171394-chr17:63172281..63178092,5	K562	blood:
4	chr17:63174850..63177630-chr17:63180207..63182028,2	K562	blood:

Variant related genes	Relation type
ENSG00000265883	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59447194	chr17:63176446-63176447	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188752199	chr17:63176462-63176463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111238379	chr17:63176475-63176476	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574457032	chr17:63176549-63176550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536396127	chr17:63176554-63176555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141462578	chr17:63176559-63176560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4791228	chr17:63176565-63176566	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577053621	chr17:63176574-63176575	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546024228	chr17:63176580-63176581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150570879	chr17:63176600-63176601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530919026	chr17:63176626-63176627	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544262568	chr17:63176656-63176657	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561027819	chr17:63176684-63176685	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139559688	chr17:63176710-63176711	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546671103	chr17:63176711-63176712	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192835338	chr17:63176759-63176760	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116296449	chr17:63176768-63176769	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573898556	chr17:63176775-63176776	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552815498	chr17:63176798-63176799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	20164920	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63157000-63179800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:63169800-63190800	Weak transcription	Gastric	stomach
4	chr17:63170000-63177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:63170000-63178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:63170000-63180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:63170600-63177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:63170800-63177400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:63173000-63179800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:63173400-63179800	Weak transcription	Aorta	Aorta
11	chr17:63173600-63180000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:63173800-63176600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:63174200-63176400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:63174400-63176600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:63174400-63179800	Weak transcription	NH-A	brain
16	chr17:63174400-63180000	Weak transcription	Osteobl	bone
17	chr17:63174600-63176400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr17:63174800-63176400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:63174800-63176400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:63174800-63176600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:63174800-63176800	Enhancers	Fetal Thymus	thymus
22	chr17:63174800-63177600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:63175000-63176400	Enhancers	Brain Anterior Caudate	brain
24	chr17:63175000-63176400	Enhancers	Fetal Brain Male	brain
25	chr17:63175000-63179000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr17:63175000-63179200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:63175000-63179200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:63175000-63179400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:63175200-63176400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr17:63175200-63176400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:63175200-63176400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:63175200-63176400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr17:63175200-63176400	Enhancers	Thymus	Thymus
34	chr17:63175200-63177000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:63175200-63178800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:63175200-63179000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:63175400-63176400	Enhancers	Lung	lung
38	chr17:63175400-63176800	Flanking Active TSS	Dnd41	blood
39	chr17:63175400-63178400	Weak transcription	Placenta	Placenta
40	chr17:63175400-63179600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:63175400-63179800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:63175400-63179800	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:63175600-63176400	Enhancers	Primary T cells from cord blood	blood
44	chr17:63175600-63176400	Flanking Active TSS	GM12878-XiMat	blood
45	chr17:63175800-63176400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr17:63175800-63176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:63175800-63176400	Enhancers	Spleen	Spleen
48	chr17:63175800-63176600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr17:63176000-63176400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:63176000-63176800	Enhancers	Primary B cells from peripheral blood	blood

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