Variant report

Variant	esv3345328
Chromosome Location	chr3:136386312-136388260
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	chr3:136380655..136383814-chr3:136385853..136389244,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554105286	chr3:136386323-136386324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145494052	chr3:136386348-136386349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566415074	chr3:136386429-136386430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371613786	chr3:136386451-136386452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373680713	chr3:136386513-136386514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148844971	chr3:136386574-136386575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145397065	chr3:136386627-136386628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568330203	chr3:136386663-136386664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537463447	chr3:136386750-136386751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536551143	chr3:136386752-136386753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555859546	chr3:136386755-136386756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187624418	chr3:136386759-136386760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35824859	chr3:136386779-136386780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577460576	chr3:136386789-136386790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546409370	chr3:136386799-136386800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553635829	chr3:136386808-136386809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190305931	chr3:136386869-136386870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371576268	chr3:136386873-136386874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542128309	chr3:136386874-136386875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562419629	chr3:136386879-136386880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140810967	chr3:136386942-136386943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145854661	chr3:136386967-136386968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563831686	chr3:136387032-136387033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116803452	chr3:136387060-136387061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370067407	chr3:136387063-136387064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76159542	chr3:136387064-136387065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557302502	chr3:136387068-136387069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140311530	chr3:136387077-136387078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548967639	chr3:136387097-136387098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569684786	chr3:136387261-136387262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28690429	chr3:136387288-136387289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569136034	chr3:136387311-136387312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4678270	chr3:136387348-136387349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557365951	chr3:136387411-136387412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75935662	chr3:136387482-136387483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138491457	chr3:136387498-136387499	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553524207	chr3:136387508-136387509	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186147479	chr3:136387520-136387521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190466437	chr3:136387538-136387539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536052494	chr3:136387540-136387541	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555735284	chr3:136387622-136387623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13063893	chr3:136387638-136387639	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543851571	chr3:136387786-136387787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563768965	chr3:136387787-136387788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577242151	chr3:136387790-136387791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558260929	chr3:136387831-136387832	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141928037	chr3:136387834-136387835	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113618584	chr3:136387840-136387841	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73863911	chr3:136387875-136387876	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529033411	chr3:136387901-136387902	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136357800-136387400	Weak transcription	Fetal Thymus	thymus
2	chr3:136365000-136396400	Weak transcription	Gastric	stomach
3	chr3:136369000-136386800	Weak transcription	Lung	lung
4	chr3:136374400-136387400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:136374400-136390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:136374600-136387400	Weak transcription	Primary T cells from cord blood	blood
7	chr3:136374600-136389400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:136374800-136390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:136375600-136390400	Weak transcription	Dnd41	blood
10	chr3:136376400-136387400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:136376600-136392200	Weak transcription	Placenta	Placenta
12	chr3:136376800-136390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:136377000-136386800	Weak transcription	Left Ventricle	heart
14	chr3:136377000-136387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:136377000-136389400	Weak transcription	NHEK	skin
16	chr3:136377000-136390400	Weak transcription	Right Ventricle	heart
17	chr3:136378600-136390400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:136378600-136390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:136378600-136391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:136378600-136393600	Weak transcription	Fetal Lung	lung
21	chr3:136378600-136394000	Weak transcription	Adipose Nuclei	Adipose
22	chr3:136378800-136390600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:136379200-136394000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:136379600-136391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:136380800-136391600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:136381600-136390400	Weak transcription	Spleen	Spleen
27	chr3:136381600-136392400	Weak transcription	Small Intestine	intestine
28	chr3:136381800-136386400	Weak transcription	Pancreas	Pancrea
29	chr3:136381800-136387400	Weak transcription	Primary B cells from cord blood	blood
30	chr3:136381800-136388800	Weak transcription	Fetal Stomach	stomach
31	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
32	chr3:136382600-136394200	Weak transcription	Fetal Heart	heart
33	chr3:136383000-136390400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:136383000-136393200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:136383400-136394800	Weak transcription	Ovary	ovary
36	chr3:136383600-136391000	Weak transcription	HepG2	liver
37	chr3:136383600-136395800	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:136383800-136391400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:136383800-136391800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:136384000-136392400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:136384200-136387600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:136384200-136390200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:136384200-136390600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:136384200-136390800	Weak transcription	HSMM	muscle
45	chr3:136384200-136391400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:136384200-136392000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:136384200-136392000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:136384200-136393200	Weak transcription	Brain Anterior Caudate	brain
49	chr3:136384200-136393800	Weak transcription	Brain Substantia Nigra	brain
50	chr3:136384400-136387400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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