Variant report

Variant	rs72811719
Chromosome Location	chr2:56144021-56144022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56143080..56147077-chr2:56148041..56151714,4	MCF-7	breast:
2	chr2:56122074..56124706-chr2:56141826..56144202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115380	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10167115	0.95[EUR][1000 genomes]
rs10201208	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10469935	0.95[EUR][1000 genomes]
rs10518794	0.84[EUR][1000 genomes]
rs13429887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs14282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370328	0.95[EUR][1000 genomes]
rs28371015	0.95[EUR][1000 genomes]
rs4318427	0.91[AMR][1000 genomes]
rs55738646	1.00[AFR][1000 genomes]
rs55749412	0.84[EUR][1000 genomes]
rs55756503	1.00[AFR][1000 genomes]
rs55811442	0.84[EUR][1000 genomes]
rs55837620	1.00[AFR][1000 genomes]
rs55845766	0.84[EUR][1000 genomes]
rs55886642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985909	1.00[AFR][1000 genomes]
rs56210563	0.95[EUR][1000 genomes]
rs56268747	0.95[EUR][1000 genomes]
rs56412571	0.84[EUR][1000 genomes]
rs6707184	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6718023	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6736923	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6737397	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6748550	0.85[EUR][1000 genomes]
rs72811703	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72811704	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72811706	1.00[AFR][1000 genomes]
rs72811707	1.00[AFR][1000 genomes]
rs72811709	1.00[AFR][1000 genomes]
rs72811710	1.00[AFR][1000 genomes]
rs72811711	1.00[AFR][1000 genomes]
rs72811712	1.00[AFR][1000 genomes]
rs72811713	1.00[AFR][1000 genomes]
rs72811714	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72811716	1.00[AFR][1000 genomes]
rs72811717	1.00[AFR][1000 genomes]
rs72811718	1.00[AFR][1000 genomes]
rs72811727	0.85[AFR][1000 genomes]
rs72811728	0.85[AFR][1000 genomes]
rs7340147	1.00[AFR][1000 genomes]
rs7340150	1.00[AFR][1000 genomes]
rs7562440	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle
4	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
5	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:56136600-56145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:56138400-56144200	Weak transcription	NH-A	brain
10	chr2:56138800-56146400	Weak transcription	A549	lung
11	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr2:56141800-56146200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:56142200-56149800	Weak transcription	Gastric	stomach
14	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
15	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:56142800-56146000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:56143000-56144600	Enhancers	NHLF	lung
18	chr2:56143000-56145800	Strong transcription	NHEK	skin
19	chr2:56143200-56144200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:56143200-56144400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:56143200-56144600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:56143200-56144600	Weak transcription	NHDF-Ad	bronchial
23	chr2:56143400-56149000	Weak transcription	Fetal Kidney	kidney
24	chr2:56143600-56145000	Strong transcription	Ovary	ovary
25	chr2:56143600-56145200	Genic enhancers	Adipose Nuclei	Adipose
26	chr2:56143600-56147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:56143600-56147600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:56143600-56148000	Strong transcription	HMEC	breast
29	chr2:56143800-56144200	Enhancers	Fetal Lung	lung
30	chr2:56143800-56144600	Weak transcription	Placenta	Placenta
31	chr2:56143800-56145000	Strong transcription	Fetal Stomach	stomach
32	chr2:56143800-56145200	Genic enhancers	Aorta	Aorta
33	chr2:56143800-56145600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:56143800-56148600	Weak transcription	Right Atrium	heart
35	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
36	chr2:56144000-56144200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:56144000-56144200	Genic enhancers	HSMM	muscle
38	chr2:56144000-56145200	Genic enhancers	Osteobl	bone
39	chr2:56144000-56146200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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