Variant report

Variant	esv3361502
Chromosome Location	chr17:38770953-38771190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38770013..38773292-chr17:38776635..38779762,4	MCF-7	breast:
2	chr17:38770739..38772968-chr17:38952202..38954281,2	MCF-7	breast:
3	chr17:38764344..38766277-chr17:38769758..38772025,3	MCF-7	breast:
4	chr17:38707503..38711120-chr17:38769935..38775644,8	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8074179	chr17:38770965-38770966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562250378	chr17:38771053-38771054	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529480050	chr17:38771101-38771102	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs373253570	chr17:38771156-38771157	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs533959263	chr17:38771160-38771161	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs36092014	chr17:38771161-38771162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375960358	chr17:38771177-38771178	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs803129	chr17:38771181-38771182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Human papillomavirus	17975027	CNVD
Breast cancer	19767729	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	16783165	CNVD
Bladder cancer	21909424	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38763400-38775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:38764800-38771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:38768600-38771200	Weak transcription	Thymus	Thymus
4	chr17:38769000-38771200	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:38769000-38772600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:38769200-38771000	Enhancers	GM12878-XiMat	blood
7	chr17:38769200-38771200	Enhancers	Primary B cells from cord blood	blood
8	chr17:38769600-38771200	Weak transcription	Esophagus	oesophagus
9	chr17:38769600-38784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:38769800-38771200	Weak transcription	Gastric	stomach
11	chr17:38769800-38772800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:38770000-38771000	Enhancers	Primary T cells from cord blood	blood
13	chr17:38770000-38771000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:38770000-38771000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:38770000-38771000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:38770000-38771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr17:38770000-38771400	Weak transcription	A549	lung
18	chr17:38770000-38772000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:38770000-38773400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:38770000-38773600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr17:38770400-38771000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr17:38770400-38771200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:38770400-38773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:38770400-38774000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:38770600-38772800	Enhancers	Fetal Thymus	thymus
26	chr17:38770600-38774000	Weak transcription	Right Atrium	heart
27	chr17:38770800-38771000	Enhancers	Fetal Kidney	kidney
28	chr17:38770800-38771200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr17:38770800-38771400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:38770800-38771400	Enhancers	Lung	lung
31	chr17:38770800-38771400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr17:38770800-38772000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr17:38770800-38772400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr17:38770800-38772400	Enhancers	Spleen	Spleen
35	chr17:38770800-38772600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:38770800-38773000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:38770800-38776200	Enhancers	Placenta	Placenta
38	chr17:38771000-38771400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr17:38771000-38771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:38771000-38771800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr17:38771000-38771800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr17:38771000-38772000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr17:38771000-38772200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr17:38771000-38772400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:38771000-38772400	Flanking Active TSS	GM12878-XiMat	blood
46	chr17:38771000-38772600	Enhancers	Ovary	ovary
47	chr17:38771000-38775200	Weak transcription	Fetal Kidney	kidney

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