Variant report

Variant	rs11112218
Chromosome Location	chr12:105264665-105264666
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	chr12:105257620..105260292-chr12:105262517..105265546,3	K562	blood:
2	chr12:104680293..104682880-chr12:105263453..105265122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10507186	1.00[CEU][hapmap]
rs10507187	1.00[CEU][hapmap]
rs10507188	1.00[CEU][hapmap]
rs12296528	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12300005	1.00[CEU][hapmap]
rs12301432	1.00[CEU][hapmap]
rs12301850	1.00[CEU][hapmap]
rs12306443	1.00[CEU][hapmap]
rs12306848	1.00[CEU][hapmap]
rs12315983	1.00[CEU][hapmap]
rs12316001	1.00[CEU][hapmap]
rs12316185	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12320024	1.00[CEU][hapmap]
rs12320880	1.00[CEU][hapmap]
rs12321381	1.00[CEU][hapmap]
rs17036439	1.00[CEU][hapmap]
rs17036463	1.00[CEU][hapmap]
rs17036494	1.00[CEU][hapmap]
rs17036505	1.00[CEU][hapmap]
rs17036509	1.00[CEU][hapmap]
rs17036534	1.00[CEU][hapmap]
rs17036542	1.00[CEU][hapmap]
rs17036549	1.00[CEU][hapmap]
rs17041531	1.00[CEU][hapmap]
rs3812795	1.00[CEU][hapmap]
rs3923753	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4077312	1.00[CEU][hapmap]
rs4375513	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4553438	1.00[CEU][hapmap]
rs55652121	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57988025	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131977	1.00[CEU][hapmap]
rs7299019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7970504	1.00[CEU][hapmap]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112218	SLC41A2	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
3	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:105259400-105277800	Weak transcription	Pancreas	Pancrea
5	chr12:105260000-105267200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:105260000-105267400	Weak transcription	NHDF-Ad	bronchial
7	chr12:105260800-105280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:105261400-105278000	Weak transcription	Gastric	stomach
9	chr12:105263800-105265400	Enhancers	GM12878-XiMat	blood
10	chr12:105263800-105266200	Strong transcription	Liver	Liver
11	chr12:105264400-105264800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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