Variant report

Variant	esv3413712
Chromosome Location	chr17:37866733-37867052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:
2	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
3	chr17:37815487..37818092-chr17:37864402..37866827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131748	chromatin interactions
ENSG00000141736	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 147 )

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	rs4252619	chr17:37866741-37866742	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549491415	chr17:37866783-37866784	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146791861	chr17:37866802-37866803	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538259430	chr17:37866857-37866858	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553605764	chr17:37866874-37866875	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113712070	chr17:37866953-37866954	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536195044	chr17:37867022-37867023	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376349163	chr17:37867049-37867050	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:147)

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
Breast cancer	20217132	CNVD
Ovarian cancer	20217132	CNVD
Breast cancer	17260090	CNVD
Breast cancer	21633010	CNVD
Breast cancer	18086299	CNVD
Breast cancer	22042366	CNVD
Salivary gland tumor	22240798	CNVD
Non-small cell lung cancer	17317677	CNVD
Cancer	20697084	CNVD
Lung cancer	17626639	CNVD
Breast cancer	18335499	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
3	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
4	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
5	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
8	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:37862400-37876800	Strong transcription	HepG2	liver
11	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
16	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
17	chr17:37862600-37866800	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr17:37862600-37871400	Weak transcription	HSMM	muscle
19	chr17:37862600-37871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:37862800-37872000	Weak transcription	NH-A	brain
22	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
24	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
25	chr17:37863000-37868800	Strong transcription	A549	lung
26	chr17:37863000-37869400	Strong transcription	Adipose Nuclei	Adipose
27	chr17:37863000-37870000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:37863000-37872400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr17:37863000-37873800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:37863000-37876600	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr17:37863000-37877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:37863000-37878800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:37863000-37879000	Strong transcription	HSMMtube	muscle
34	chr17:37863000-37879600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:37863200-37867000	Strong transcription	NHLF	lung
37	chr17:37863200-37868800	Strong transcription	Aorta	Aorta
38	chr17:37863200-37869200	Strong transcription	Ovary	ovary
39	chr17:37863200-37869400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:37863200-37876800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:37863200-37879400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:37863400-37867000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:37863400-37868800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr17:37863400-37869200	Strong transcription	Fetal Kidney	kidney
47	chr17:37863400-37869400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:37863400-37869400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:37863400-37869400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:37863400-37869400	Strong transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links