Variant report

Variant	esv3325318
Chromosome Location	chr17:38639146-38639517
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	MAX	chr17:38637858-38639391	A549	lung:	n/a	chr17:38639062-38639072
2	MYC	chr17:38639342-38639382	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr17:38639126-38639287	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr17:38639209-38639350	A549	lung:	n/a	n/a
5	POLR2A	chr17:38638947-38641454	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:38639190-38639371	A549	lung:	n/a	n/a
7	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
8	POLR2A	chr17:38639057-38639435	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:38639065-38639330	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr17:38639013-38641604	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:38638060-38645729	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr17:38638883-38645646	MCF10A-Er-Src	breast:	n/a	n/a
13	SP1	chr17:38638085-38639359	A549	lung:	n/a	chr17:38638553-38638567 chr17:38639056-38639070 chr17:38639159-38639168 chr17:38639159-38639169
14	STAT3	chr17:38638997-38639316	MCF10A-Er-Src	breast:	n/a	chr17:38639064-38639076
15	STAT3	chr17:38639054-38639182	MCF10A-Er-Src	breast:	n/a	chr17:38639064-38639076
16	STAT3	chr17:38639054-38639247	MCF10A-Er-Src	breast:	n/a	chr17:38639064-38639076
17	STAT3	chr17:38639023-38639247	MCF10A-Er-Src	breast:	n/a	chr17:38639064-38639076
18	TCF12	chr17:38637770-38639740	A549	lung:	n/a	n/a
19	YY1	chr17:38639010-38639152	K562	blood:	n/a	n/a
20	ZNF384	chr17:38638939-38639396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38633817..38637978-chr17:38639202..38643004,3	K562	blood:
2	chr17:38638255..38640177-chr17:38640329..38642532,3	K562	blood:
3	chr17:38639003..38641951-chr17:38683883..38685651,2	MCF-7	breast:

Variant related genes	Relation type
TNS4	TF binding region
ENSG00000131746	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553453948	chr17:38639151-38639152	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552086584	chr17:38639178-38639179	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530839797	chr17:38639206-38639207	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189081314	chr17:38639217-38639218	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561833697	chr17:38639249-38639250	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79091232	chr17:38639255-38639256	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554205801	chr17:38639271-38639272	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549304617	chr17:38639361-38639362	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567483605	chr17:38639364-38639365	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535192976	chr17:38639380-38639381	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556602218	chr17:38639414-38639415	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11078948	chr17:38639417-38639418	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539039155	chr17:38639418-38639419	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111622473	chr17:38639457-38639458	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:38632800-38641000	Weak transcription	Osteobl	bone
7	chr17:38633000-38641000	Weak transcription	NHLF	lung
8	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
9	chr17:38634000-38639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:38635600-38639400	Enhancers	Primary B cells from cord blood	blood
12	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:38636000-38649600	Genic enhancers	HMEC	breast
16	chr17:38636400-38639200	Enhancers	Stomach Mucosa	stomach
17	chr17:38636400-38639600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:38636600-38639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:38636600-38639400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
21	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
22	chr17:38637000-38639400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38637000-38643400	Enhancers	K562	blood
30	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:38637200-38639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:38637200-38639400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr17:38637200-38639800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:38637200-38641000	Weak transcription	NH-A	brain
35	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:38637400-38639200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr17:38637400-38640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:38637400-38641000	Weak transcription	HSMM	muscle
40	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
41	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose
42	chr17:38637400-38642400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:38637400-38642800	Weak transcription	Small Intestine	intestine
44	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
45	chr17:38637400-38648200	Genic enhancers	NHEK	skin
46	chr17:38637600-38639200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr17:38637600-38639400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:38637600-38640200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr17:38637600-38640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:38637600-38640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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