Variant report

Variant	esv275276
Chromosome Location	chr17:37876203-37876806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37875233..37878023-chr17:37910337..37912992,2	MCF-7	breast:
2	chr17:37874861..37876535-chr17:37884600..37886557,2	K562	blood:
3	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
4	chr17:37856670..37858872-chr17:37874487..37877508,3	MCF-7	breast:
5	chr17:37843888..37846797-chr17:37874927..37876468,2	MCF-7	breast:
6	chr17:37858390..37860926-chr17:37875652..37877494,2	K562	blood:
7	chr17:37843958..37845642-chr17:37874066..37877258,3	MCF-7	breast:
8	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
9	chr17:37870758..37873083-chr17:37874555..37877273,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161395	chromatin interactions
ENSG00000141736	chromatin interactions
ENSG00000265178	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 136 )

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	rs569649318	chr17:37876269-37876270	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs546733223	chr17:37876331-37876332	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs4252641	chr17:37876379-37876380	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529390309	chr17:37876400-37876401	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184810360	chr17:37876412-37876413	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373491301	chr17:37876419-37876420	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs141828324	chr17:37876433-37876434	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539730179	chr17:37876489-37876490	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190129958	chr17:37876491-37876492	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147092282	chr17:37876528-37876529	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534407194	chr17:37876546-37876547	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4252642	chr17:37876571-37876572	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574574971	chr17:37876594-37876595	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541993034	chr17:37876635-37876636	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs151086431	chr17:37876751-37876752	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4252643	chr17:37876767-37876768	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545743267	chr17:37876774-37876775	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181644299	chr17:37876787-37876788	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555533612	chr17:37876797-37876798	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	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
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	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	18702822	CNVD
Breast cancer	17938205	CNVD
Breast cancer	20943603	CNVD
Pheochromocytoma	18310300	CNVD
Gastric adenocarcinoma	22014070	CNVD
Cervical cancer	17311676	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Central neurocytomas	17123091	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
2	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
3	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
4	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
7	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:37862400-37876800	Strong transcription	HepG2	liver
10	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
15	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
16	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
19	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:37863000-37876600	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr17:37863000-37877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:37863000-37878800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:37863000-37879000	Strong transcription	HSMMtube	muscle
24	chr17:37863000-37879600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:37863200-37876800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:37863200-37879400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:37863400-37876800	Strong transcription	Osteobl	bone
31	chr17:37863600-37883000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
33	chr17:37863800-37881000	Weak transcription	Thymus	Thymus
34	chr17:37863800-37881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:37864600-37882200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:37864800-37883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:37865000-37884800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:37865800-37884200	Weak transcription	Brain Angular Gyrus	brain
39	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
40	chr17:37866200-37879400	Strong transcription	Placenta	Placenta
41	chr17:37866600-37879600	Weak transcription	Fetal Brain Female	brain
42	chr17:37866800-37876800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:37867000-37882800	Weak transcription	Fetal Thymus	thymus
44	chr17:37868400-37882800	Weak transcription	Brain Anterior Caudate	brain
45	chr17:37869200-37883000	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:37870200-37876800	Strong transcription	Aorta	Aorta
47	chr17:37870400-37876600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:37870400-37878600	Strong transcription	Fetal Lung	lung
49	chr17:37871200-37876400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:37871400-37876400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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