Variant report

Variant	esv3366339
Chromosome Location	chr3:155283158-155285156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs359538	chr3:155283177-155283178	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188320478	chr3:155283266-155283267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573050755	chr3:155283282-155283283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142159984	chr3:155283292-155283293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548153804	chr3:155283293-155283294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147292058	chr3:155283305-155283306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373751310	chr3:155283344-155283345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546096605	chr3:155283398-155283399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55676183	chr3:155283445-155283446	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565687003	chr3:155283454-155283455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200767198	chr3:155283480-155283481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144040297	chr3:155283489-155283490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200695294	chr3:155283490-155283491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67810928	chr3:155283491-155283492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568576250	chr3:155283495-155283496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34922939	chr3:155283501-155283502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397823022	chr3:155283502-155283503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181763133	chr3:155283570-155283571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548341081	chr3:155283571-155283572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569769048	chr3:155283605-155283606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146229162	chr3:155283629-155283630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114169460	chr3:155283633-155283634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570450899	chr3:155283639-155283640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534635814	chr3:155283679-155283680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186276788	chr3:155283733-155283734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563764053	chr3:155283767-155283768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541575314	chr3:155283783-155283784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371596043	chr3:155283869-155283870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575437091	chr3:155283883-155283884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62286064	chr3:155283894-155283895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62286065	chr3:155283901-155283902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62286066	chr3:155283903-155283904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75955084	chr3:155283947-155283948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75230715	chr3:155283949-155283950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546086283	chr3:155283963-155283964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138906882	chr3:155283964-155283965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564481241	chr3:155283972-155283973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7617467	chr3:155283973-155283974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71627058	chr3:155283977-155283978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540652455	chr3:155283986-155283987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147053596	chr3:155283988-155283989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13076772	chr3:155283991-155283992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573215677	chr3:155283996-155283997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140373929	chr3:155283999-155284000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191470875	chr3:155284008-155284009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545057452	chr3:155284020-155284021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550807825	chr3:155284030-155284031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563467068	chr3:155284038-155284039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530765281	chr3:155284039-155284040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201333811	chr3:155284052-155284053	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155257000-155289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:155259400-155284800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:155259400-155289800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:155260200-155302600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:155266200-155287200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:155272200-155302800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:155273400-155312800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:155274200-155286000	Weak transcription	Pancreas	Pancrea
9	chr3:155274200-155293800	Weak transcription	Stomach Mucosa	stomach
10	chr3:155275600-155311800	Weak transcription	Fetal Intestine Large	intestine
11	chr3:155275600-155312800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:155277000-155283200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:155277600-155285200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:155278400-155289800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:155278400-155302800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:155278600-155287400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:155278800-155289600	Weak transcription	A549	lung
18	chr3:155279400-155283400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:155282000-155295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:155282800-155283200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:155283000-155290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:155283000-155315000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:155283200-155288200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:155283400-155285400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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