Variant report

Variant	rs72888467
Chromosome Location	chr2:183883687-183883688
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183874817..183877710-chr2:183883545..183886850,4	K562	blood:
2	chr2:183844632..183846289-chr2:183883233..183885836,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17265880	0.96[EUR][1000 genomes]
rs2675089	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66727515	0.88[EUR][1000 genomes]
rs6711655	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6734848	0.95[EUR][1000 genomes]
rs6739840	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72886535	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72886536	0.95[EUR][1000 genomes]
rs72886597	0.96[EUR][1000 genomes]
rs72888442	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888444	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888445	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888453	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888459	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72888485	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72888487	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7575613	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183846000-183902000	Weak transcription	Lung	lung
3	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
4	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
6	chr2:183866800-183885400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung
8	chr2:183866800-183889200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:183867800-183889200	Weak transcription	Liver	Liver
10	chr2:183875000-183890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183875200-183884800	Weak transcription	Fetal Stomach	stomach
12	chr2:183875200-183885400	Weak transcription	NHDF-Ad	bronchial
13	chr2:183875200-183886000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:183875200-183888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:183875200-183891000	Weak transcription	Pancreas	Pancrea
16	chr2:183875200-183896200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:183875200-183896600	Weak transcription	Hela-S3	cervix
18	chr2:183875400-183885800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:183875400-183886400	Weak transcription	Fetal Kidney	kidney
20	chr2:183875400-183886600	Weak transcription	HSMM	muscle
21	chr2:183875400-183897000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:183875400-183899600	Weak transcription	HSMMtube	muscle
23	chr2:183875800-183886000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:183877000-183886000	Weak transcription	Osteobl	bone
25	chr2:183877400-183884400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:183878200-183883800	Weak transcription	NHEK	skin
27	chr2:183878400-183888600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:183878600-183889600	Weak transcription	Ovary	ovary
29	chr2:183878800-183884800	Weak transcription	Right Atrium	heart
30	chr2:183878800-183886000	Weak transcription	Psoas Muscle	Psoas
31	chr2:183878800-183889600	Weak transcription	Gastric	stomach
32	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
33	chr2:183879200-183900200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:183879400-183889200	Weak transcription	NHLF	lung
35	chr2:183879600-183890800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:183879600-183897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:183879800-183885400	Weak transcription	K562	blood
38	chr2:183879800-183885600	Weak transcription	A549	lung
39	chr2:183879800-183885800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:183879800-183888400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:183879800-183888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:183879800-183889600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:183880000-183886200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:183880200-183900800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:183881000-183888800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:183881200-183885600	Enhancers	Fetal Heart	heart
47	chr2:183881400-183884000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:183881400-183884000	Strong transcription	HepG2	liver
49	chr2:183881400-183894200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:183881600-183885800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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