Variant report

Variant	esv3404430
Chromosome Location	chr17:66953582-66956130
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	IRF3	chr17:66953947-66954040	GM12878	blood:	n/a	n/a
2	RFX5	chr17:66954932-66954956	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABCA8	TF binding region

Extended variants
information (count: 151 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375022890	chr17:66953594-66953595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28450507	chr17:66953601-66953602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569354156	chr17:66953608-66953609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140951761	chr17:66953620-66953621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560951464	chr17:66953623-66953624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9897075	chr17:66953629-66953630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549906247	chr17:66953659-66953660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571827050	chr17:66953693-66953694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534347312	chr17:66953701-66953702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532794480	chr17:66953714-66953715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548089020	chr17:66953722-66953723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62087825	chr17:66953786-66953787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372923508	chr17:66953791-66953792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187927351	chr17:66953844-66953845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138095777	chr17:66953869-66953870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11868372	chr17:66953909-66953910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11869992	chr17:66954003-66954004	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142243408	chr17:66954013-66954014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs577411362	chr17:66954031-66954032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538473628	chr17:66954047-66954048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555364281	chr17:66954048-66954049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554015165	chr17:66954074-66954075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530208915	chr17:66954082-66954083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573846350	chr17:66954199-66954200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542930118	chr17:66954327-66954328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200385654	chr17:66954333-66954334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76778067	chr17:66954337-66954338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75928061	chr17:66954338-66954339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560674835	chr17:66954390-66954391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145966265	chr17:66954392-66954393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543534092	chr17:66954452-66954453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547985138	chr17:66954541-66954542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565002399	chr17:66954556-66954557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532739289	chr17:66954557-66954558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56049464	chr17:66954558-66954559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556498674	chr17:66954563-66954564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547642583	chr17:66954565-66954566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61564908	chr17:66954566-66954567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371822473	chr17:66954578-66954579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59677045	chr17:66954586-66954587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559918705	chr17:66954599-66954600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534670440	chr17:66954615-66954616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56315302	chr17:66954675-66954676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60329109	chr17:66954682-66954683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59020171	chr17:66954684-66954685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57927903	chr17:66954689-66954690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55985476	chr17:66954704-66954705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372548002	chr17:66954731-66954732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72190063	chr17:66954732-66954733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71144643	chr17:66954738-66954739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66952000-66957000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:66952000-66957000	Weak transcription	Brain Anterior Caudate	brain
3	chr17:66952000-66957000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr17:66952000-66957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:66952000-66957400	Weak transcription	Adipose Nuclei	Adipose
6	chr17:66955600-66957400	Weak transcription	Brain Hippocampus Middle	brain

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