Variant report

Variant	esv3363223
Chromosome Location	chr17:66622435-66622990
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	SRF	chr17:66622930-66623030	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267659	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79531707	chr17:66622510-66622511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75734434	chr17:66622511-66622512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539568414	chr17:66622519-66622520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373319900	chr17:66622520-66622521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189281382	chr17:66622564-66622565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34983094	chr17:66622569-66622570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2159332	chr17:66622575-66622576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536485711	chr17:66622589-66622590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148925753	chr17:66622608-66622609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182325896	chr17:66622609-66622610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556367870	chr17:66622618-66622619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186769350	chr17:66622619-66622620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201594734	chr17:66622651-66622652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560385112	chr17:66622652-66622653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143200538	chr17:66622712-66622713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549552269	chr17:66622750-66622751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543059894	chr17:66622829-66622830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142752904	chr17:66622845-66622846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536955109	chr17:66622889-66622890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532072232	chr17:66622918-66622919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557903976	chr17:66622922-66622923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7224421	chr17:66622942-66622943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558394075	chr17:66622945-66622946	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs191606248	chr17:66622954-66622955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183126285	chr17:66622974-66622975	Weak transcription	TF binding region	1 gene(s)	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66610000-66624200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:66618800-66624200	Weak transcription	Osteobl	bone
3	chr17:66619400-66624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:66621200-66624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:66621200-66624000	Weak transcription	Placenta	Placenta
6	chr17:66621200-66624000	Weak transcription	Ovary	ovary
7	chr17:66621200-66624000	Weak transcription	HMEC	breast
8	chr17:66621800-66624200	Weak transcription	Esophagus	oesophagus
9	chr17:66622400-66624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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