Variant report

Variant	esv3392735
Chromosome Location	chr17:46763403-46765601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46754493..46757349-chr17:46765268..46767829,2	K562	blood:
2	chr17:46757300..46759092-chr17:46761138..46763617,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 115 )

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	rs3110607	chr17:46763403-46763404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530581755	chr17:46763408-46763409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187510368	chr17:46763442-46763443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9903698	chr17:46763498-46763499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191873554	chr17:46763518-46763519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546203355	chr17:46763532-46763533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538779918	chr17:46763557-46763558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566102838	chr17:46763565-46763566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535538134	chr17:46763578-46763579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34002327	chr17:46763580-46763581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs35270706	chr17:46763594-46763595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575837039	chr17:46763595-46763596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538054195	chr17:46763634-46763635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558517659	chr17:46763658-46763659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182619721	chr17:46763683-46763684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540897884	chr17:46763684-46763685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111935160	chr17:46763727-46763728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554233904	chr17:46763730-46763731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574038475	chr17:46763759-46763760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114923700	chr17:46763760-46763761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187940786	chr17:46763761-46763762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192220549	chr17:46763768-46763769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544058939	chr17:46763803-46763804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554586112	chr17:46763831-46763832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576161544	chr17:46763849-46763850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117519084	chr17:46763923-46763924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546443203	chr17:46763928-46763929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541960649	chr17:46763950-46763951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4793970	chr17:46763962-46763963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549108963	chr17:46763966-46763967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568838955	chr17:46763993-46763994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538466349	chr17:46764026-46764027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558400680	chr17:46764076-46764077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137979071	chr17:46764116-46764117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71144517	chr17:46764151-46764152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185706416	chr17:46764161-46764162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571843408	chr17:46764170-46764171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534502669	chr17:46764171-46764172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73326010	chr17:46764238-46764239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111649027	chr17:46764255-46764256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543702016	chr17:46764272-46764273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12942696	chr17:46764281-46764282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200561093	chr17:46764311-46764312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146981645	chr17:46764369-46764370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545455320	chr17:46764389-46764390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184425355	chr17:46764400-46764401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112734318	chr17:46764463-46764464	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs201826931	chr17:46764504-46764505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372912035	chr17:46764511-46764512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545708909	chr17:46764513-46764514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46756200-46765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:46756800-46786400	Weak transcription	Colonic Mucosa	Colon
3	chr17:46757000-46770800	Weak transcription	A549	lung
4	chr17:46757600-46764800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:46761800-46764800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:46764800-46765200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr17:46764800-46765600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr17:46765000-46765200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:46765000-46771800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:46765200-46768600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:46765600-46782600	Weak transcription	Rectal Mucosa Donor 29	rectum

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