Variant report

Variant	rs12472876
Chromosome Location	chr2:205316243-205316244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205314742..205317390-chr2:205323844..205326602,2	K562	blood:
2	chr2:205314792..205317401-chr2:205318306..205319999,2	K562	blood:
3	chr2:205269954..205272543-chr2:205315221..205317326,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10084416	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10932063	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1156249	0.93[ASN][1000 genomes]
rs11690070	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616166	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13010221	0.84[ASN][1000 genomes]
rs13024043	0.86[ASN][1000 genomes]
rs1374708	0.95[ASN][1000 genomes]
rs1374709	0.95[ASN][1000 genomes]
rs1447488	0.89[ASN][1000 genomes]
rs1447490	1.00[ASN][1000 genomes]
rs1447493	1.00[ASN][1000 genomes]
rs1447495	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17637637	1.00[ASN][1000 genomes]
rs34157021	0.95[ASN][1000 genomes]
rs34368384	0.89[ASN][1000 genomes]
rs4675457	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71427747	0.86[ASN][1000 genomes]
rs7557903	0.81[AFR][1000 genomes]
rs7602656	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs959032	1.00[ASN][1000 genomes]
rs959033	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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:205313600-205316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:205313600-205316800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:205313800-205317000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:205314200-205316600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:205314200-205316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:205315400-205316400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:205315400-205316600	Weak transcription	Fetal Brain Male	brain
10	chr2:205315600-205317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:205315600-205318400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:205315600-205318400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:205315600-205318800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:205315800-205316400	Weak transcription	Fetal Lung	lung
15	chr2:205316000-205316400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:205316000-205316400	Weak transcription	K562	blood
17	chr2:205316000-205318400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:205316200-205316400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:205316200-205316400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:205316200-205316400	Enhancers	Lung	lung
21	chr2:205316200-205317600	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links