Variant report

Variant	nsv238089
Chromosome Location	chr3:136098002-136105895
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	chr3:135954886..135956782-chr3:136102988..136105563,2	MCF-7	breast:

Extended variants
information (count: 315 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112598372	chr3:136098015-136098016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201688059	chr3:136098019-136098020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567586874	chr3:136098052-136098053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536135003	chr3:136098064-136098065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183089685	chr3:136098065-136098066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569874857	chr3:136098082-136098083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73222302	chr3:136098085-136098086	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577959855	chr3:136098117-136098118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558706035	chr3:136098120-136098121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572009375	chr3:136098168-136098169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553661620	chr3:136098190-136098191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534645626	chr3:136098261-136098262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554242960	chr3:136098284-136098285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575122037	chr3:136098291-136098292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138107908	chr3:136098293-136098294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563601353	chr3:136098319-136098320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577027523	chr3:136098356-136098357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186676956	chr3:136098368-136098369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559813854	chr3:136098378-136098379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142562951	chr3:136098394-136098395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10935181	chr3:136098408-136098409	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561925700	chr3:136098409-136098410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530886005	chr3:136098423-136098424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550101646	chr3:136098427-136098428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569935868	chr3:136098448-136098449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532361167	chr3:136098464-136098465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552382853	chr3:136098465-136098466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565792695	chr3:136098466-136098467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534414256	chr3:136098471-136098472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554593285	chr3:136098474-136098475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567975824	chr3:136098519-136098520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536604564	chr3:136098524-136098525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138578812	chr3:136098526-136098527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542216073	chr3:136098544-136098545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562067007	chr3:136098545-136098546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530985116	chr3:136098554-136098555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113812795	chr3:136098556-136098557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9811261	chr3:136098559-136098560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573334209	chr3:136098565-136098566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141657372	chr3:136098621-136098622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183035596	chr3:136098626-136098627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540249790	chr3:136098652-136098653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544581516	chr3:136098694-136098695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144428252	chr3:136098749-136098750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187445369	chr3:136098823-136098824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57634912	chr3:136098846-136098847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397975558	chr3:136098849-136098850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552393401	chr3:136098852-136098853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565725015	chr3:136098865-136098866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148403825	chr3:136098886-136098887	Weak transcription Strong transcription	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136043400-136098600	Weak transcription	Fetal Brain Male	brain
2	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:136055600-136100800	Weak transcription	Spleen	Spleen
4	chr3:136063400-136139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:136063400-136139000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:136063600-136105600	Weak transcription	Gastric	stomach
7	chr3:136063600-136110600	Weak transcription	Small Intestine	intestine
8	chr3:136063600-136139200	Weak transcription	Pancreas	Pancrea
9	chr3:136067600-136109000	Weak transcription	HUVEC	blood vessel
10	chr3:136068600-136103800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:136069400-136121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:136069600-136107400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:136069600-136138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:136069600-136139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:136069800-136106600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:136069800-136118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:136069800-136159600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:136070600-136101000	Weak transcription	Right Ventricle	heart
19	chr3:136070600-136105800	Weak transcription	Psoas Muscle	Psoas
20	chr3:136070800-136099600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:136070800-136112200	Weak transcription	Aorta	Aorta
22	chr3:136070800-136121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:136072600-136098800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:136072800-136100400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:136075000-136137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:136075400-136108000	Weak transcription	Fetal Brain Female	brain
27	chr3:136075600-136105800	Weak transcription	Ovary	ovary
28	chr3:136075800-136099000	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:136075800-136160200	Weak transcription	Brain Germinal Matrix	brain
30	chr3:136079400-136174200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:136081200-136118800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:136083200-136111400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:136084400-136123200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:136085400-136104200	Weak transcription	GM12878-XiMat	blood
35	chr3:136085600-136100000	Weak transcription	Osteobl	bone
36	chr3:136085600-136116400	Weak transcription	Fetal Intestine Large	intestine
37	chr3:136085800-136099400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:136085800-136100000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:136085800-136100400	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:136085800-136100800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:136085800-136116400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:136085800-136139200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:136085800-136174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:136086000-136112200	Weak transcription	Liver	Liver
45	chr3:136086000-136128400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:136086000-136136000	Weak transcription	HSMM	muscle
47	chr3:136086200-136174800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:136086400-136116800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:136088200-136106400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:136088400-136121200	Weak transcription	Thymus	Thymus

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