Variant report

Variant	esv275419
Chromosome Location	chr2:151447063-151452042
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:151338773..151340469-chr2:151447242..151449602,2	MCF-7	breast:
2	chr13:26681491..26682293-chr2:151448480..151449368,2	MCF-7	breast:
3	chr2:151344046..151346532-chr2:151451655..151453615,2	MCF-7	breast:
4	chr2:151342117..151344556-chr2:151448432..151450582,2	MCF-7	breast:
5	chr2:151446443..151448791-chr2:151456173..151458106,3	MCF-7	breast:
6	chr2:151376610..151379497-chr2:151451017..151452892,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RND3-2	chr2:151451616-151452104	XLOC_002356

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions
ITGB1	miRNA target sites

Extended variants
information (count: 174 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17197737	chr2:151447063-151447064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191410588	chr2:151447102-151447103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573599441	chr2:151447225-151447226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200923548	chr2:151447233-151447234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16828355	chr2:151447237-151447238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538348935	chr2:151447251-151447252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114928248	chr2:151447264-151447265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78402410	chr2:151447282-151447283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376458532	chr2:151447316-151447317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183544716	chr2:151447328-151447329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554598523	chr2:151447331-151447332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71397083	chr2:151447338-151447339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368923388	chr2:151447339-151447340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533242554	chr2:151447340-151447341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59000435	chr2:151447354-151447355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536861003	chr2:151447356-151447357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187950404	chr2:151447390-151447391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370854559	chr2:151447425-151447426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193086321	chr2:151447436-151447437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199551234	chr2:151447507-151447508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554019955	chr2:151447508-151447509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201701838	chr2:151447509-151447510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577365695	chr2:151447513-151447514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546366359	chr2:151447514-151447515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112907780	chr2:151447518-151447519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368568126	chr2:151447542-151447543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577793213	chr2:151447636-151447637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556513068	chr2:151447647-151447648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576386440	chr2:151447694-151447695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148966634	chr2:151447771-151447772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562208407	chr2:151447798-151447799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527986220	chr2:151447882-151447883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185537443	chr2:151447903-151447904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190009438	chr2:151447915-151447916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375551908	chr2:151447938-151447939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532065119	chr2:151447967-151447968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181699590	chr2:151448019-151448020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568816065	chr2:151448027-151448028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531182533	chr2:151448032-151448033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548185895	chr2:151448045-151448046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368793139	chr2:151448127-151448128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528585418	chr2:151448167-151448168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568323003	chr2:151448178-151448179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534084049	chr2:151448182-151448183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72867418	chr2:151448220-151448221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184234907	chr2:151448235-151448236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570700176	chr2:151448262-151448263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539925199	chr2:151448282-151448283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143649574	chr2:151448317-151448318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567231680	chr2:151448326-151448327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151443600-151450400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:151444400-151448000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:151444400-151448200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:151444400-151448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:151444600-151448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:151444600-151448200	Weak transcription	HMEC	breast
7	chr2:151444600-151448200	Weak transcription	NHEK	skin
8	chr2:151444600-151452200	Weak transcription	NH-A	brain
9	chr2:151445000-151448000	Weak transcription	Osteobl	bone
10	chr2:151445000-151448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:151445200-151447800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:151445200-151448000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:151445200-151448000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:151445200-151448400	Weak transcription	HSMM	muscle
15	chr2:151445400-151447600	Weak transcription	NHLF	lung
16	chr2:151445400-151448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:151445600-151447400	Weak transcription	NHDF-Ad	bronchial
18	chr2:151446400-151447400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:151446400-151447800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:151446400-151448200	Weak transcription	A549	lung
21	chr2:151446600-151447800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:151446600-151447800	Weak transcription	Fetal Brain Male	brain
23	chr2:151446800-151447200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:151447000-151447400	Weak transcription	Brain Germinal Matrix	brain
25	chr2:151447000-151447800	Weak transcription	Fetal Brain Female	brain
26	chr2:151447200-151449400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:151447400-151448200	Enhancers	NHDF-Ad	bronchial
28	chr2:151447400-151448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:151447400-151448400	Enhancers	Brain Germinal Matrix	brain
30	chr2:151447600-151449000	Enhancers	NHLF	lung
31	chr2:151447800-151448000	Enhancers	Fetal Brain Female	brain
32	chr2:151447800-151448800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:151447800-151448800	Enhancers	Fetal Brain Male	brain
34	chr2:151447800-151449000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:151447800-151449000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:151448000-151448800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:151448000-151448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:151448000-151449000	Enhancers	Osteobl	bone
39	chr2:151448000-151449200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:151448000-151449400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:151448000-151452600	Weak transcription	Fetal Brain Female	brain
42	chr2:151448200-151448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:151448200-151448800	Enhancers	A549	lung
44	chr2:151448200-151449000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:151448200-151449000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:151448200-151449000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr2:151448200-151449000	Enhancers	NHEK	skin
48	chr2:151448200-151449200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:151448200-151449200	Enhancers	HMEC	breast
50	chr2:151448400-151448800	Enhancers	HSMM	muscle

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