Variant report

Variant	esv2759192
Chromosome Location	chr3:155485302-155491007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
2	chr3:155488449..155490862-chr3:155570678..155572291,2	MCF-7	breast:
3	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
4	chr3:155483233..155486124-chr3:155587848..155589390,2	MCF-7	breast:
5	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
6	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:
7	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163655	chromatin interactions
ENSG00000169359	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs358733	chr3:155485302-155485303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549220115	chr3:155485309-155485310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188799695	chr3:155485322-155485323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374827619	chr3:155485345-155485346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537895789	chr3:155485358-155485359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367615105	chr3:155485371-155485372	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550135854	chr3:155485372-155485373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371550942	chr3:155485379-155485380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553502383	chr3:155485394-155485395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374977209	chr3:155485407-155485408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368515010	chr3:155485412-155485413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571680741	chr3:155485435-155485436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372934756	chr3:155485449-155485450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200279997	chr3:155485450-155485451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539091748	chr3:155485541-155485542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557996314	chr3:155485550-155485551	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573031398	chr3:155485551-155485552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180834190	chr3:155485578-155485579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138312293	chr3:155485587-155485588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573870905	chr3:155485591-155485592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543902839	chr3:155485669-155485670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571767841	chr3:155485729-155485730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562483155	chr3:155485746-155485747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577679482	chr3:155485748-155485749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545496792	chr3:155485771-155485772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114544712	chr3:155485832-155485833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549638460	chr3:155485844-155485845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531444453	chr3:155485855-155485856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577429974	chr3:155485866-155485867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543337589	chr3:155485887-155485888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185489442	chr3:155485888-155485889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569327972	chr3:155485889-155485890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183089	chr3:155485919-155485920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371483469	chr3:155485948-155485949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562046642	chr3:155485949-155485950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549154777	chr3:155485967-155485968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113579498	chr3:155486003-155486004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34155100	chr3:155486010-155486011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs397820012	chr3:155486013-155486014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372104196	chr3:155486034-155486035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532007645	chr3:155486157-155486158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189274524	chr3:155486342-155486343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538281770	chr3:155486384-155486385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538068380	chr3:155486400-155486401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566883525	chr3:155486463-155486464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538768323	chr3:155486530-155486531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547866632	chr3:155486591-155486592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149139066	chr3:155486694-155486695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143216851	chr3:155486703-155486704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555585893	chr3:155486708-155486709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155463800-155487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:155463800-155501200	Weak transcription	Aorta	Aorta
3	chr3:155464200-155487600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:155464200-155487600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:155464200-155487800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:155464200-155487800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:155464200-155487800	Weak transcription	Pancreas	Pancrea
8	chr3:155464200-155489600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:155464200-155490600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:155464600-155487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:155467000-155487200	Weak transcription	Fetal Brain Female	brain
12	chr3:155467200-155500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:155467200-155508000	Weak transcription	K562	blood
14	chr3:155467200-155508800	Weak transcription	Hela-S3	cervix
15	chr3:155467400-155508400	Weak transcription	HepG2	liver
16	chr3:155468000-155487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:155470400-155487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:155470400-155487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:155470800-155487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:155471000-155487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:155471000-155487800	Weak transcription	Right Ventricle	heart
22	chr3:155471200-155487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:155471400-155509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:155471800-155487600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:155472200-155487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:155472400-155487200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:155472800-155488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:155472800-155500000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:155473200-155487400	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:155473200-155487400	Weak transcription	Thymus	Thymus
31	chr3:155474200-155487600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:155474200-155487800	Weak transcription	Spleen	Spleen
33	chr3:155474200-155490600	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:155474200-155497600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:155474400-155492000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:155474800-155487400	Weak transcription	Dnd41	blood
37	chr3:155474800-155487800	Weak transcription	Primary T cells from cord blood	blood
38	chr3:155474800-155489000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:155475200-155491000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:155475200-155492200	Weak transcription	Fetal Kidney	kidney
41	chr3:155476400-155487400	Weak transcription	Left Ventricle	heart
42	chr3:155476400-155487800	Weak transcription	Fetal Stomach	stomach
43	chr3:155476600-155500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:155477000-155487600	Weak transcription	Ovary	ovary
45	chr3:155478400-155487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:155478400-155487400	Weak transcription	Brain Germinal Matrix	brain
47	chr3:155478600-155509000	Weak transcription	Gastric	stomach
48	chr3:155478800-155487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:155478800-155487800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:155478800-155487800	Weak transcription	Psoas Muscle	Psoas

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