Variant report

Variant	esv3386488
Chromosome Location	chr3:155221260-155221678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551268191	chr3:155221282-155221283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562707693	chr3:155221289-155221290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28575712	chr3:155221319-155221320	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77218905	chr3:155221323-155221324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187979585	chr3:155221324-155221325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569008217	chr3:155221326-155221327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57141788	chr3:155221327-155221328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397955452	chr3:155221340-155221341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566611982	chr3:155221413-155221414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527822065	chr3:155221434-155221435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180879347	chr3:155221471-155221472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567921943	chr3:155221508-155221509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113434409	chr3:155221579-155221580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139329132	chr3:155221592-155221593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569085248	chr3:155221632-155221633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564423491	chr3:155221633-155221634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562133209	chr3:155221636-155221637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185580137	chr3:155221663-155221664	Weak transcription Strong 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155195000-155230400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:155196200-155231600	Weak transcription	Gastric	stomach
3	chr3:155198400-155230600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:155198800-155221600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:155198800-155230800	Weak transcription	Pancreas	Pancrea
6	chr3:155199000-155229800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:155200600-155230200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:155200800-155223600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:155200800-155251400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:155202400-155230000	Weak transcription	A549	lung
11	chr3:155205400-155221800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:155206800-155224000	Strong transcription	Dnd41	blood
13	chr3:155208000-155230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:155210600-155222600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:155210800-155237600	Weak transcription	Fetal Kidney	kidney
16	chr3:155212800-155230000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:155215000-155230200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:155215000-155230200	Weak transcription	Fetal Intestine Small	intestine
19	chr3:155216600-155230200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:155217000-155221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:155217400-155230000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:155218600-155221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:155218600-155222200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:155218600-155229800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:155218600-155230000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:155218600-155230000	Weak transcription	Thymus	Thymus
27	chr3:155218600-155236600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:155219200-155222400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:155219400-155221600	Weak transcription	Fetal Thymus	thymus
30	chr3:155220400-155222400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:155221400-155222800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:155221600-155222200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:155221600-155223200	Strong transcription	Fetal Thymus	thymus

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