Variant report

Variant	esv2760765
Chromosome Location	chr3:155181380-155182467
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	chr3:155167059..155168776-chr3:155182415..155184760,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9848852	chr3:155181380-155181381	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570541114	chr3:155181381-155181382	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150621484	chr3:155181387-155181388	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76068589	chr3:155181463-155181464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76113384	chr3:155181559-155181560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117586046	chr3:155181592-155181593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572202851	chr3:155181609-155181610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192259510	chr3:155181617-155181618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554862323	chr3:155181618-155181619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576420054	chr3:155181630-155181631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370718453	chr3:155181640-155181641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183833735	chr3:155181648-155181649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552450916	chr3:155181661-155181662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113336441	chr3:155181667-155181668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73874807	chr3:155181697-155181698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149801089	chr3:155181713-155181714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372944119	chr3:155181763-155181764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115826102	chr3:155181791-155181792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77873591	chr3:155181803-155181804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563136508	chr3:155181824-155181825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9829532	chr3:155181831-155181832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551068592	chr3:155181882-155181883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532035822	chr3:155181884-155181885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563613285	chr3:155181901-155181902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569350383	chr3:155181916-155181917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531088504	chr3:155181925-155181926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552486872	chr3:155181953-155181954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570502965	chr3:155181999-155182000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201421633	chr3:155182077-155182078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528523632	chr3:155182130-155182131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115962119	chr3:155182167-155182168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548484107	chr3:155182190-155182191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538138874	chr3:155182214-155182215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568469686	chr3:155182218-155182219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536410962	chr3:155182220-155182221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188069728	chr3:155182263-155182264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554823485	chr3:155182292-155182293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368353148	chr3:155182322-155182323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569891343	chr3:155182323-155182324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78486171	chr3:155182366-155182367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80068201	chr3:155182368-155182369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57554411	chr3:155182376-155182377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192591014	chr3:155182414-155182415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537324256	chr3:155182438-155182439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558929854	chr3:155182444-155182445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184266191	chr3:155182454-155182455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55729036	chr3:155182457-155182458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540683322	chr3:155182466-155182467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155173800-155182400	Weak transcription	Gastric	stomach
2	chr3:155175000-155183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:155176000-155183400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:155177600-155186800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:155178400-155198800	Weak transcription	Thymus	Thymus
6	chr3:155178800-155183600	Weak transcription	Fetal Thymus	thymus
7	chr3:155179000-155181600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:155179600-155181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:155180800-155181400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:155180800-155200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:155181200-155182800	Weak transcription	Dnd41	blood
12	chr3:155181400-155186200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:155181600-155183000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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