Variant report

Variant	rs10778353
Chromosome Location	chr12:105213868-105213869
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	chr12:105212787..105215531-chr12:105216343..105219007,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10507189	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10861279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861283	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10861284	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10861285	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10861289	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10861290	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112201	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112204	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112214	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112216	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112219	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112222	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112226	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112236	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112239	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112240	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112244	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112247	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112255	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11112262	0.82[EUR][1000 genomes]
rs11112267	0.82[AMR][1000 genomes]
rs11112273	0.82[AMR][1000 genomes]
rs12368247	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368856	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12371663	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12372069	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2047128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405400	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4603387	0.95[ASN][1000 genomes]
rs7303811	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9669285	1.00[ASN][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	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	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
rs10778353	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105197600-105218400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:105199800-105218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:105201200-105218200	Weak transcription	Gastric	stomach
4	chr12:105201400-105220600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:105205000-105218400	Weak transcription	Fetal Stomach	stomach
6	chr12:105205400-105217800	Weak transcription	Esophagus	oesophagus
7	chr12:105206600-105217800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:105208800-105214600	Strong transcription	Liver	Liver
9	chr12:105211000-105219200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:105211800-105218200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:105213000-105216400	Weak transcription	Hela-S3	cervix
13	chr12:105213200-105214400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:105213400-105214200	ZNF genes & repeats	Aorta	Aorta
15	chr12:105213400-105214200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr12:105213600-105214000	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr12:105213600-105214000	ZNF genes & repeats	Spleen	Spleen
18	chr12:105213600-105214200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr12:105213600-105214200	ZNF genes & repeats	Pancreas	Pancrea
20	chr12:105213800-105214200	Weak transcription	Brain Angular Gyrus	brain

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