Variant report

Variant	rs72948197
Chromosome Location	chr3:51211817-51211818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12485331	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12485754	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12487496	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12489219	0.89[EUR][1000 genomes]
rs12490026	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12491836	1.00[EUR][1000 genomes]
rs12492615	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492690	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493034	0.89[EUR][1000 genomes]
rs12493323	0.89[EUR][1000 genomes]
rs12493359	0.89[EUR][1000 genomes]
rs12495561	0.89[EUR][1000 genomes]
rs12496830	0.89[EUR][1000 genomes]
rs1809388	0.89[EUR][1000 genomes]
rs2086395	0.89[EUR][1000 genomes]
rs2127654	1.00[EUR][1000 genomes]
rs2170177	0.84[EUR][1000 genomes]
rs2355946	0.84[EUR][1000 genomes]
rs3762711	1.00[EUR][1000 genomes]
rs4130473	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4323036	0.89[EUR][1000 genomes]
rs4346580	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4927961	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4974100	0.89[EUR][1000 genomes]
rs4974112	0.89[EUR][1000 genomes]
rs56052360	0.89[EUR][1000 genomes]
rs57406588	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58720544	0.89[EUR][1000 genomes]
rs58911602	0.89[EUR][1000 genomes]
rs59682667	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59834534	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59957657	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60128296	0.84[EUR][1000 genomes]
rs60461297	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60567238	0.89[EUR][1000 genomes]
rs60740654	0.89[EUR][1000 genomes]
rs60882641	0.89[EUR][1000 genomes]
rs6792254	0.89[EUR][1000 genomes]
rs72936442	0.89[EUR][1000 genomes]
rs72936462	0.84[EUR][1000 genomes]
rs72941919	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72943130	0.89[EUR][1000 genomes]
rs72943137	0.89[EUR][1000 genomes]
rs72943166	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72948200	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72953143	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72953162	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72953175	1.00[EUR][1000 genomes]
rs7372342	0.89[EUR][1000 genomes]
rs9878592	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51209600-51213200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr3:51209800-51212400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:51209800-51212800	ZNF genes & repeats	Fetal Brain Female	brain
4	chr3:51210000-51212400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr3:51210000-51213000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:51210400-51213600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:51210600-51212600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:51210600-51212800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:51210600-51212800	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr3:51211000-51212800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:51211000-51215200	Weak transcription	Left Ventricle	heart
12	chr3:51211200-51213000	Strong transcription	Brain Hippocampus Middle	brain
13	chr3:51211200-51214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:51211400-51212200	Weak transcription	Brain Substantia Nigra	brain
15	chr3:51211400-51213800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:51211400-51214000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:51211600-51212000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:51211600-51212000	Weak transcription	Brain Anterior Caudate	brain
19	chr3:51211600-51212200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:51211600-51218600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:51211800-51213000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links