Variant report

Variant	rs12194768
Chromosome Location	chr6:53736758-53736759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10948783	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10948784	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12193567	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12209621	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935664	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4128619	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236114	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4260754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4265034	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4273680	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4331986	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4392712	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4583974	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4612163	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4624872	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4645423	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6458967	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6458968	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6904545	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6906921	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6907027	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6910777	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6913431	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6935621	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6935838	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7453639	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7745548	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7749635	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7749749	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7751036	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7755924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7761285	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296722	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9296723	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349682	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9349683	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9349684	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9367543	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9370234	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9370237	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9370238	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9370240	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9382240	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9382242	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382245	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9382247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9395879	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9395880	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9395882	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9395883	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395884	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9395887	0.92[AMR][1000 genomes];0.88[EUR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53695000-53743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:53709800-53762200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:53719800-53747800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:53720600-53741400	Weak transcription	Dnd41	blood
5	chr6:53722000-53748200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:53723400-53736800	Weak transcription	Stomach Mucosa	stomach
7	chr6:53727600-53751800	Weak transcription	Thymus	Thymus
8	chr6:53728600-53738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:53728600-53738600	Weak transcription	NHEK	skin
10	chr6:53729400-53738800	Weak transcription	Pancreas	Pancrea
11	chr6:53729400-53748000	Weak transcription	HepG2	liver
12	chr6:53730200-53748200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:53730200-53758800	Weak transcription	Brain Anterior Caudate	brain
14	chr6:53730400-53737200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:53730400-53743800	Weak transcription	Fetal Heart	heart
16	chr6:53732000-53739400	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:53732000-53747800	Weak transcription	HSMMtube	muscle
18	chr6:53732000-53760400	Weak transcription	Aorta	Aorta
19	chr6:53734600-53741400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:53735000-53739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:53735000-53751800	Weak transcription	Gastric	stomach
22	chr6:53735200-53738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:53735200-53738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:53735400-53755600	Weak transcription	HUVEC	blood vessel
25	chr6:53736200-53751400	Weak transcription	Brain Substantia Nigra	brain
26	chr6:53736600-53736800	ZNF genes & repeats	Fetal Intestine Small	intestine

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