Variant report

Variant	esv2755769
Chromosome Location	chr3:160352298-160359298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160349966..160352721-chr3:160360801..160362360,2	K562	blood:
2	chr3:160351738..160354562-chr3:160355719..160358512,3	K562	blood:
3	chr3:160263639..160265252-chr3:160357091..160359879,2	K562	blood:
4	chr3:160284019..160287638-chr3:160358155..160361126,3	K562	blood:
5	chr3:160158711..160161195-chr3:160357597..160359673,2	K562	blood:
6	chr3:160351738..160354562-chr3:160355719..160358512,3	K562	blood:

Variant related genes	Relation type
ENSG00000229320	chromatin interactions

Extended variants
information (count: 254 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188333795	chr3:160352315-160352316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13065269	chr3:160352319-160352320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192011799	chr3:160352354-160352355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577182311	chr3:160352390-160352391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565629432	chr3:160352803-160352804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137934750	chr3:160352830-160352831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76746982	chr3:160352854-160352855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183781841	chr3:160352904-160352905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1920659	chr3:160352945-160352946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs536911284	chr3:160352989-160352990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558816442	chr3:160353030-160353031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189138503	chr3:160353050-160353051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375991344	chr3:160353057-160353058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577095029	chr3:160353106-160353107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545872361	chr3:160353117-160353118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201065268	chr3:160353130-160353131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533652538	chr3:160353134-160353135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578123343	chr3:160353181-160353182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573213324	chr3:160353239-160353240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13094009	chr3:160353271-160353272	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs562232321	chr3:160353272-160353273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76667857	chr3:160353305-160353306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7648393	chr3:160353328-160353329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs191288728	chr3:160353365-160353366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73026008	chr3:160353383-160353384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543895107	chr3:160353397-160353398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551846950	chr3:160353427-160353428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186994618	chr3:160353446-160353447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528146539	chr3:160353477-160353478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75792036	chr3:160353480-160353481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7628861	chr3:160353481-160353482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574828504	chr3:160353532-160353533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567848215	chr3:160353573-160353574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536825972	chr3:160353580-160353581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556782269	chr3:160353593-160353594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191772035	chr3:160353597-160353598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539726975	chr3:160353652-160353653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553066516	chr3:160353810-160353811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573207458	chr3:160353815-160353816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542280848	chr3:160353816-160353817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112333364	chr3:160353851-160353852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555879334	chr3:160353857-160353858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542144394	chr3:160353905-160353906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11929352	chr3:160353906-160353907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544810436	chr3:160353964-160353965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530694929	chr3:160353967-160353968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185052160	chr3:160353971-160353972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527440306	chr3:160354068-160354069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540941659	chr3:160354117-160354118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375450805	chr3:160354133-160354134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160351600-160352400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:160352800-160353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:160352800-160353400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:160353000-160353600	Enhancers	Hela-S3	cervix
5	chr3:160353200-160354800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:160353600-160354800	Weak transcription	Hela-S3	cervix
7	chr3:160354600-160355200	Enhancers	HUVEC	blood vessel
8	chr3:160354800-160355000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:160354800-160355400	Enhancers	NH-A	brain
10	chr3:160354800-160355800	Enhancers	Hela-S3	cervix
11	chr3:160355000-160355400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:160355200-160358800	Weak transcription	HUVEC	blood vessel
13	chr3:160355400-160355600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:160355400-160359600	Weak transcription	NH-A	brain
15	chr3:160355600-160357200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:160355800-160358200	Weak transcription	Hela-S3	cervix
17	chr3:160356000-160356400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:160356400-160359000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:160357200-160358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:160358200-160361000	Enhancers	Hela-S3	cervix
21	chr3:160358800-160360400	Enhancers	HUVEC	blood vessel
22	chr3:160359000-160360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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