Variant report

Variant	esv3441832
Chromosome Location	chr3:119583462-119585585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119582780..119584886-chr3:119591876..119594468,2	MCF-7	breast:
2	chr3:119581923..119584726-chr3:119588066..119590624,3	MCF-7	breast:
3	chr3:119538043..119540363-chr3:119581345..119583946,2	K562	blood:
4	chr3:119577746..119580043-chr3:119582834..119585503,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533679442	chr3:119583480-119583481	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182494663	chr3:119583514-119583515	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376733089	chr3:119583623-119583624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569822595	chr3:119583657-119583658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535647330	chr3:119583673-119583674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1732170	chr3:119583676-119583677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146584293	chr3:119583679-119583680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114765117	chr3:119583689-119583690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571477705	chr3:119583730-119583731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375239685	chr3:119583740-119583741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538774684	chr3:119583743-119583744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557017373	chr3:119583750-119583751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149156278	chr3:119583760-119583761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575501908	chr3:119583842-119583843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554623087	chr3:119583877-119583878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143282654	chr3:119583998-119583999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567158579	chr3:119584013-119584014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74913853	chr3:119584056-119584057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577091702	chr3:119584112-119584113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144080181	chr3:119584140-119584141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148307011	chr3:119584201-119584202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376259119	chr3:119584240-119584241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140442947	chr3:119584277-119584278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141030354	chr3:119584290-119584291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571774130	chr3:119584313-119584314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3107668	chr3:119584315-119584316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs68102708	chr3:119584320-119584321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187489241	chr3:119584338-119584339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559858701	chr3:119584417-119584418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528801904	chr3:119584518-119584519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546953594	chr3:119584528-119584529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370037746	chr3:119584558-119584559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571540984	chr3:119584559-119584560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537983950	chr3:119584562-119584563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193067364	chr3:119584568-119584569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550706270	chr3:119584595-119584596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183322468	chr3:119584604-119584605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111526890	chr3:119584627-119584628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554966572	chr3:119584650-119584651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566726756	chr3:119584686-119584687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117015986	chr3:119584707-119584708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34246577	chr3:119584753-119584754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558268624	chr3:119584805-119584806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577151354	chr3:119584808-119584809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544422303	chr3:119584822-119584823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578081927	chr3:119584829-119584830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75247538	chr3:119584832-119584833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574491462	chr3:119584859-119584860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575796697	chr3:119584901-119584902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117830363	chr3:119584957-119584958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119541200-119587000	Weak transcription	Gastric	stomach
2	chr3:119546000-119663400	Weak transcription	Lung	lung
3	chr3:119551400-119594600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:119561200-119591200	Weak transcription	Stomach Mucosa	stomach
5	chr3:119562400-119611000	Weak transcription	Fetal Stomach	stomach
6	chr3:119566800-119586000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:119567000-119605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:119569400-119629400	Weak transcription	Esophagus	oesophagus
9	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:119575000-119583800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:119575000-119583800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr3:119575000-119585400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:119575000-119585800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:119575000-119586800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:119575000-119588000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:119575400-119583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:119575600-119584200	Strong transcription	Primary T cells from cord blood	blood
18	chr3:119576600-119584000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:119577000-119598800	Weak transcription	Fetal Brain Male	brain
20	chr3:119577400-119585200	Strong transcription	Primary B cells from cord blood	blood
21	chr3:119577400-119585200	Strong transcription	HSMM	muscle
22	chr3:119577400-119596600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:119577600-119585400	Weak transcription	K562	blood
24	chr3:119577600-119589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:119577600-119598200	Weak transcription	Left Ventricle	heart
26	chr3:119577600-119602800	Weak transcription	Psoas Muscle	Psoas
27	chr3:119577600-119607600	Weak transcription	Aorta	Aorta
28	chr3:119577800-119583800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:119577800-119607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:119578000-119585600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:119578000-119601400	Weak transcription	Fetal Intestine Small	intestine
32	chr3:119578200-119583600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:119578800-119584000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:119579400-119587000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:119579400-119587000	Strong transcription	Dnd41	blood
36	chr3:119580400-119584000	Strong transcription	NHDF-Ad	bronchial
37	chr3:119580600-119585000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:119580800-119583600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:119580800-119584000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:119581200-119583600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:119581200-119583600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:119581400-119584000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:119581400-119584000	Strong transcription	NHEK	skin
44	chr3:119581600-119583800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr3:119581600-119583800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:119581600-119584000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:119581600-119586600	Strong transcription	HMEC	breast
48	chr3:119581800-119605400	Weak transcription	Colonic Mucosa	Colon
49	chr3:119582200-119583600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:119582400-119584000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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