Variant report

Variant	rs10861283
Chromosome Location	chr12:105260515-105260516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104581580..104584541-chr12:105258858..105261291,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10507189	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10778353	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10861279	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861290	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861298	0.85[ASN][1000 genomes]
rs11112201	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112204	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112211	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112213	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112226	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112236	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112239	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112240	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112244	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112247	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112255	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11112262	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112267	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112272	0.84[AMR][1000 genomes]
rs11112273	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112278	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112280	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112281	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112282	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112288	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112289	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112290	0.81[AMR][1000 genomes]
rs11112298	0.81[AMR][1000 genomes]
rs11112300	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112301	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112302	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112305	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112312	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112317	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11519610	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11519721	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12368247	0.90[EUR][1000 genomes]
rs12368856	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12371663	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12372030	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12372069	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16891	0.81[AMR][1000 genomes]
rs2047128	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4405400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303811	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9943769	0.85[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	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
rs10861283	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
4	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:105257000-105260600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:105257000-105260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105257000-105260800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:105257000-105261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105258600-105260800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105259200-105263800	Weak transcription	Aorta	Aorta
11	chr12:105259200-105264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:105259400-105277800	Weak transcription	Pancreas	Pancrea
13	chr12:105259800-105260600	Enhancers	NH-A	brain
14	chr12:105260000-105263800	Weak transcription	GM12878-XiMat	blood
15	chr12:105260000-105267200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:105260000-105267400	Weak transcription	NHDF-Ad	bronchial
17	chr12:105260200-105261400	Enhancers	Liver	Liver

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