Variant report

Variant	rs7303811
Chromosome Location	chr12:105302539-105302540
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	chr12:105302265..105304511-chr12:105355863..105357764,2	K562	blood:
2	chr12:105297810..105300145-chr12:105300569..105303265,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10507189	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10778353	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10861279	0.91[CEU][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10861283	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861284	0.91[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861285	0.91[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861289	0.91[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861290	0.91[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861298	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11112179	0.82[CEU][hapmap]
rs11112201	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112204	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11112211	0.82[ASW][hapmap];0.91[CEU][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112213	0.82[ASW][hapmap];0.91[CEU][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112214	0.91[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112216	0.91[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112219	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112222	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112226	0.91[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112236	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112239	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112240	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112244	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112247	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112255	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112262	0.91[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112267	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11112272	0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11112273	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112274	0.80[CEU][hapmap]
rs11112278	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112280	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112281	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112282	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112288	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112289	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112290	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs11112298	0.81[AMR][1000 genomes]
rs11112300	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112301	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112302	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112304	0.82[CEU][hapmap]
rs11112305	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112312	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112317	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112344	1.00[JPT][hapmap]
rs11519610	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11519721	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12320801	0.82[CEU][hapmap]
rs12368247	0.83[EUR][1000 genomes]
rs12368856	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371663	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12372030	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12372069	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs2047128	0.91[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4331189	0.89[CEU][hapmap]
rs4405400	0.82[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9943769	0.83[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
rs7303811	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:105284600-105309000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105290800-105331600	Weak transcription	Gastric	stomach
4	chr12:105293400-105302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:105293400-105310000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:105293600-105303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105293600-105321600	Weak transcription	A549	lung
8	chr12:105297400-105306600	Weak transcription	Ovary	ovary
9	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
11	chr12:105297800-105313000	Weak transcription	Fetal Stomach	stomach
12	chr12:105298200-105303200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:105298200-105303800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:105298200-105314600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:105300000-105303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
17	chr12:105301400-105303200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:105302400-105302800	Weak transcription	Liver	Liver

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