Variant report

Variant	nsv875277
Chromosome Location	chr2:149094415-149178974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:149134166..149136482-chr2:149845391..149847794,2	MCF-7	breast:
2	chr2:149130660..149131621-chr21:9826960..9827638,2	MCF-7	breast:
3	chr2:149098190..149099193-chr8:103870990..103871561,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074878
2	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074872
3	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074871

No data

Extended variants
information (count: 3026 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3026 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2034671	chr2:149094415-149094416	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542809995	chr2:149094429-149094430	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561649780	chr2:149094434-149094435	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs34366123	chr2:149094458-149094459	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185753506	chr2:149094489-149094490	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73015113	chr2:149094493-149094494	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559602330	chr2:149094577-149094578	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564982925	chr2:149094700-149094701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532359923	chr2:149094702-149094703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57336274	chr2:149094716-149094717	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190606199	chr2:149094731-149094732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181235259	chr2:149094756-149094757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148533434	chr2:149094757-149094758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527745216	chr2:149094784-149094785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186507970	chr2:149094818-149094819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533871145	chr2:149094939-149094940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549208378	chr2:149095039-149095040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567789201	chr2:149095058-149095059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535227612	chr2:149095062-149095063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537801636	chr2:149095078-149095079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556298051	chr2:149095083-149095084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574423301	chr2:149095096-149095097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543223595	chr2:149095241-149095242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545287296	chr2:149095248-149095249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573379320	chr2:149095267-149095268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191008349	chr2:149095279-149095280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565195306	chr2:149095291-149095292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532372854	chr2:149095308-149095309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182348377	chr2:149095322-149095323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186818094	chr2:149095360-149095361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372484941	chr2:149095368-149095369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563013674	chr2:149095423-149095424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144455764	chr2:149095457-149095458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548641550	chr2:149095585-149095586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571583343	chr2:149095644-149095645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190908143	chr2:149095658-149095659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114469360	chr2:149095683-149095684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538964420	chr2:149095691-149095692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553910075	chr2:149095756-149095757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570714194	chr2:149095762-149095763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537863949	chr2:149095802-149095803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567344099	chr2:149095870-149095871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537302105	chr2:149095934-149095935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376576567	chr2:149095952-149095953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183479087	chr2:149095986-149095987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115554300	chr2:149096005-149096006	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553819211	chr2:149096035-149096036	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536494094	chr2:149096069-149096070	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573363455	chr2:149096077-149096078	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540378567	chr2:149096078-149096079	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:149067200-149095800	Weak transcription	HSMM	muscle
5	chr2:149069200-149096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:149069400-149096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
9	chr2:149071400-149100400	Weak transcription	Ovary	ovary
10	chr2:149071800-149095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:149071800-149100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:149085400-149100400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:149086400-149099600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:149086400-149099800	Weak transcription	GM12878-XiMat	blood
15	chr2:149086800-149098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:149086800-149100400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:149088400-149100400	Weak transcription	Fetal Kidney	kidney
18	chr2:149088800-149096200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:149089600-149100400	Weak transcription	Fetal Intestine Large	intestine
21	chr2:149089600-149105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:149089800-149096000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:149090000-149104200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:149090400-149100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:149090400-149100400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:149090600-149096200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:149090600-149100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:149091000-149100000	Weak transcription	Pancreas	Pancrea
29	chr2:149092400-149095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:149092400-149100400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:149092400-149100400	Weak transcription	Right Ventricle	heart
32	chr2:149092600-149095600	Weak transcription	Brain Germinal Matrix	brain
33	chr2:149092600-149100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:149092600-149100400	Weak transcription	Adipose Nuclei	Adipose
35	chr2:149092600-149100400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:149092600-149100400	Weak transcription	Fetal Brain Female	brain
37	chr2:149092600-149100400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:149092600-149100400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:149092600-149100400	Weak transcription	Small Intestine	intestine
40	chr2:149092800-149100400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:149092800-149101200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:149093000-149100400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:149093000-149100400	Weak transcription	Psoas Muscle	Psoas
44	chr2:149093000-149101200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:149093000-149103400	Weak transcription	Aorta	Aorta
46	chr2:149093200-149102400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:149093200-149104000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:149093400-149095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:149093600-149094600	Strong transcription	Primary B cells from cord blood	blood
50	chr2:149093600-149094600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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