Variant report

Variant	rs72915321
Chromosome Location	chr2:189889460-189889461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10194770	0.88[ASN][1000 genomes]
rs10194927	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10195023	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10197596	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10200215	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207407	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10207530	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10208525	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210319	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392501	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13393368	0.93[ASN][1000 genomes]
rs13421883	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429993	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432580	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384143	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55965240	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974662	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56074008	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56954312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56970084	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59777852	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72902328	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904403	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72904488	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72906383	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72915330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355694	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355697	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:189881200-189895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:189885200-189890200	Weak transcription	HSMM	muscle
6	chr2:189885200-189895600	Weak transcription	HSMMtube	muscle
7	chr2:189885200-189898800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:189885800-189895600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:189886600-189895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:189887200-189891000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:189887200-189895800	Weak transcription	Fetal Lung	lung
12	chr2:189887400-189891200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:189887400-189895400	Weak transcription	NH-A	brain
14	chr2:189887600-189895000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:189887600-189895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:189887600-189897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:189888000-189889600	Weak transcription	Osteobl	bone
18	chr2:189888000-189890000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:189888000-189917400	Weak transcription	Ovary	ovary
21	chr2:189888400-189889800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:189889200-189890400	Enhancers	Adipose Nuclei	Adipose
23	chr2:189889200-189891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:189889400-189890400	Enhancers	Aorta	Aorta
25	chr2:189889400-189890400	Enhancers	Fetal Muscle Leg	muscle
26	chr2:189889400-189890400	Enhancers	Fetal Stomach	stomach
27	chr2:189889400-189890400	Genic enhancers	NHLF	lung
28	chr2:189889400-189890600	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links