Variant report

Variant	esv3324088
Chromosome Location	chr17:46729378-46731926
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	CEBPB	chr17:46731342-46731521	K562	blood:	n/a	n/a
2	POLR2A	chr17:46730024-46730026	K562	blood:	n/a	n/a
3	POLR2A	chr17:46730807-46732022	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46727732..46729730-chr17:46732348..46734217,2	K562	blood:
2	chr17:46702088..46704523-chr17:46727512..46730354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272763	TF binding region
ENSG00000170689	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144444408	chr17:46729501-46729502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368375505	chr17:46729513-46729514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150666529	chr17:46729518-46729519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182374656	chr17:46729548-46729549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28870735	chr17:46729629-46729630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139806688	chr17:46729676-46729677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561573370	chr17:46729685-46729686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530406041	chr17:46729690-46729691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149794960	chr17:46729696-46729697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560096411	chr17:46729705-46729706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35511991	chr17:46729821-46729822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372420923	chr17:46729866-46729867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57993225	chr17:46729867-46729868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35944007	chr17:46729879-46729880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532504457	chr17:46729887-46729888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552414455	chr17:46729930-46729931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566121395	chr17:46729945-46729946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60118017	chr17:46729952-46729953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547179907	chr17:46729965-46729966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4793597	chr17:46729996-46729997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186873592	chr17:46730052-46730053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191768776	chr17:46730069-46730070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181254524	chr17:46730076-46730077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34255291	chr17:46730099-46730100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534303287	chr17:46730148-46730149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575962405	chr17:46730159-46730160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185364311	chr17:46730166-46730167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558371771	chr17:46730181-46730182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189735602	chr17:46730313-46730314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182081484	chr17:46730329-46730330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572130815	chr17:46730401-46730402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554144643	chr17:46730417-46730418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139865227	chr17:46730465-46730466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200874650	chr17:46730467-46730468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201685604	chr17:46730471-46730472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200304588	chr17:46730473-46730474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375976220	chr17:46730475-46730476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201458214	chr17:46730485-46730486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58028542	chr17:46730486-46730487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8071227	chr17:46730494-46730495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541682680	chr17:46730506-46730507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8067301	chr17:46730562-46730563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187831436	chr17:46730578-46730579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71144510	chr17:46730582-46730583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12953273	chr17:46730590-46730591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200143026	chr17:46730591-46730592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12953277	chr17:46730592-46730593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66843967	chr17:46730593-46730594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61394116	chr17:46730594-46730595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34758496	chr17:46730595-46730596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
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
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
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	17443227	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
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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46725400-46739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:46725600-46732000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:46725600-46749000	Weak transcription	A549	lung
4	chr17:46726000-46729400	Weak transcription	GM12878-XiMat	blood
5	chr17:46729400-46730200	Enhancers	GM12878-XiMat	blood
6	chr17:46730000-46733200	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links