Variant report

Variant	esv3374043
Chromosome Location	chr3:163981299-164017775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
2	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
3	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:

Extended variants
information (count: 1336 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533144948	chr3:163981333-163981334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187435843	chr3:163981369-163981370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375004376	chr3:163981371-163981372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560667669	chr3:163981404-163981405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192615790	chr3:163981425-163981426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549122178	chr3:163981495-163981496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551123113	chr3:163981509-163981510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562754273	chr3:163981543-163981544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1575154	chr3:163981544-163981545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551681564	chr3:163981556-163981557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372153758	chr3:163981564-163981565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571136335	chr3:163981576-163981577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533819759	chr3:163981624-163981625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536911229	chr3:163981646-163981647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547167879	chr3:163981665-163981666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571792778	chr3:163981705-163981706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1575155	chr3:163981709-163981710	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115904595	chr3:163981731-163981732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556353270	chr3:163981751-163981752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74561129	chr3:163981770-163981771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77951820	chr3:163981771-163981772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73031501	chr3:163981807-163981808	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1853105	chr3:163981838-163981839	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371643066	chr3:163981839-163981840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572852275	chr3:163981858-163981859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577183560	chr3:163981883-163981884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115453787	chr3:163981987-163981988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540660341	chr3:163982075-163982076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184011644	chr3:163982084-163982085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573759443	chr3:163982107-163982108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542731270	chr3:163982132-163982133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563389005	chr3:163982190-163982191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187763919	chr3:163982217-163982218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531815794	chr3:163982310-163982311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80012984	chr3:163982358-163982359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372473562	chr3:163982372-163982373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565612637	chr3:163982383-163982384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577624497	chr3:163982391-163982392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13068095	chr3:163982436-163982437	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567160137	chr3:163982441-163982442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536317390	chr3:163982444-163982445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192523148	chr3:163982480-163982481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569843051	chr3:163982484-163982485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538869673	chr3:163982512-163982513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558560401	chr3:163982520-163982521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201231395	chr3:163982581-163982582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548894140	chr3:163982591-163982592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184801358	chr3:163982597-163982598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188411277	chr3:163982605-163982606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147211665	chr3:163982622-163982623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:164005600-164006800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164006800-164007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:164007200-164007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:164007600-164009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164009400-164009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:164009400-164009800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:164009400-164009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:164009800-164014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:164014200-164015400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:164015400-164017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:164017000-164017400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:164017400-164019800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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