Variant report

Variant	esv3369158
Chromosome Location	chr17:38678907-38679540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:38678562-38678931	IMR90	lung:	n/a	n/a
2	EP300	chr17:38678832-38679723	A549	lung:	n/a	n/a
3	FOS	chr17:38678559-38678927	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:38678675-38678913	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr17:38678788-38678908	K562	blood:	n/a	n/a
6	MAZ	chr17:38676785-38679269	IMR90	lung:	n/a	chr17:38676819-38676828 chr17:38676817-38676825 chr17:38676821-38676828 chr17:38677127-38677137
7	POLR2A	chr17:38677768-38679416	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr17:38678977-38679205	A549	lung:	n/a	n/a
9	POLR2A	chr17:38679045-38679187	A549	lung:	n/a	n/a
10	POLR2A	chr17:38677614-38679548	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr17:38676712-38679035	IMR90	lung:	n/a	n/a
12	RCOR1	chr17:38679387-38679517	Hela-S3	cervix:	n/a	n/a
13	REST	chr17:38677132-38678934	A549	lung:	n/a	chr17:38678520-38678528 chr17:38677137-38677151 chr17:38677174-38677187 chr17:38677903-38677921
14	TCF12	chr17:38676988-38680080	A549	lung:	n/a	chr17:38677183-38677190
15	USF2	chr17:38679025-38679376	Hela-S3	cervix:	n/a	n/a
16	ZKSCAN1	chr17:38678878-38679276	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr17:38679237-38679428	Hela-S3	cervix:	n/a	n/a
18	ZNF384	chr17:38678621-38678994	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38671928..38674313-chr17:38677766..38679421,2	MCF-7	breast:
2	chr17:38629814..38633387-chr17:38676751..38679736,4	MCF-7	breast:
3	chr17:38675352..38677497-chr17:38677864..38681564,3	MCF-7	breast:
4	chr17:38676325..38680650-chr17:38704875..38709448,7	MCF-7	breast:
5	chr17:38678096..38679987-chr17:38715270..38716866,2	MCF-7	breast:
6	chr17:38571667..38573665-chr17:38677679..38680655,2	K562	blood:
7	chr17:38654640..38659414-chr17:38673768..38679140,6	MCF-7	breast:
8	chr17:38673127..38676333-chr17:38678075..38682047,4	K562	blood:
9	chr17:38639539..38641673-chr17:38677366..38679503,2	K562	blood:
10	chr17:38679491..38681189-chr17:38685861..38688027,2	MCF-7	breast:
11	chr17:38677974..38679924-chr17:38691519..38693332,2	MCF-7	breast:
12	chr17:38600130..38602545-chr17:38675909..38679796,4	MCF-7	breast:
13	chr17:38647398..38649761-chr17:38676727..38678938,2	K562	blood:
14	chr17:38677625..38680142-chr17:38696757..38698899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000131746	chromatin interactions
ENSG00000266088	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530012523	chr17:38678911-38678912	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565591288	chr17:38678918-38678919	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141405758	chr17:38678930-38678931	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117897189	chr17:38678947-38678948	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559675434	chr17:38678991-38678992	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542084931	chr17:38679036-38679037	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs55951994	chr17:38679135-38679136	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147014977	chr17:38679201-38679202	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185099336	chr17:38679240-38679241	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144873144	chr17:38679250-38679251	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188798200	chr17:38679251-38679252	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs367703926	chr17:38679275-38679276	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377717943	chr17:38679283-38679284	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544574986	chr17:38679323-38679324	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547826278	chr17:38679359-38679360	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149034524	chr17:38679390-38679391	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538526535	chr17:38679404-38679405	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370767200	chr17:38679405-38679406	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373864970	chr17:38679408-38679409	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547605207	chr17:38679414-38679415	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367979635	chr17:38679417-38679418	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201264498	chr17:38679443-38679444	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202155875	chr17:38679444-38679445	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376449921	chr17:38679447-38679448	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565728367	chr17:38679473-38679474	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536801691	chr17:38679511-38679512	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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	16620391	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	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38668400-38680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38671400-38679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38671600-38679400	Enhancers	Placenta	Placenta
4	chr17:38672200-38679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:38672600-38680800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:38672800-38679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:38674000-38679200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:38674200-38681200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:38675000-38679400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:38675400-38679200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr17:38675400-38680800	Enhancers	HMEC	breast
12	chr17:38675600-38686600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38675800-38679200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:38677000-38679000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:38677000-38679200	Enhancers	HSMMtube	muscle
16	chr17:38677000-38679600	Enhancers	Dnd41	blood
17	chr17:38677000-38680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:38677200-38679800	Enhancers	Esophagus	oesophagus
19	chr17:38677400-38679200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:38677400-38679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38677400-38679800	Weak transcription	Primary B cells from cord blood	blood
22	chr17:38677600-38682200	Weak transcription	Spleen	Spleen
23	chr17:38677600-38687800	Weak transcription	Right Ventricle	heart
24	chr17:38677800-38680600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:38678000-38679200	Enhancers	Primary T cells from cord blood	blood
26	chr17:38678000-38683000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:38678000-38686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:38678200-38679600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr17:38678200-38679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:38678200-38684200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:38678200-38685200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:38678400-38679000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:38678400-38679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:38678400-38679200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr17:38678400-38679400	Weak transcription	Stomach Mucosa	stomach
36	chr17:38678400-38679600	Enhancers	A549	lung
37	chr17:38678400-38680000	Enhancers	Hela-S3	cervix
38	chr17:38678400-38680400	Weak transcription	NHDF-Ad	bronchial
39	chr17:38678600-38681800	Weak transcription	HSMM	muscle
40	chr17:38678600-38684200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr17:38678800-38679600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:38678800-38680200	Genic enhancers	NHEK	skin
43	chr17:38678800-38686800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:38679000-38679200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:38679000-38682800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:38679200-38679400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr17:38679200-38679400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:38679200-38679400	Enhancers	Lung	lung
49	chr17:38679200-38680400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:38679200-38680400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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