Variant report

Variant	rs7743585
Chromosome Location	chr6:13048051-13048052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11961962	0.89[CEU][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs13190774	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs13192747	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs13193716	0.93[EUR][1000 genomes]
rs13200673	0.89[EUR][1000 genomes]
rs13204304	0.89[EUR][1000 genomes]
rs13205551	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs13205960	0.89[CEU][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs13209107	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs13215349	0.87[EUR][1000 genomes]
rs13218974	0.85[EUR][1000 genomes]
rs13219842	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs1579135	0.87[JPT][hapmap]
rs34054185	0.93[EUR][1000 genomes]
rs34267578	0.87[EUR][1000 genomes]
rs34381599	0.92[EUR][1000 genomes]
rs34952336	0.90[EUR][1000 genomes]
rs35229766	0.90[EUR][1000 genomes]
rs35273948	0.93[EUR][1000 genomes]
rs35305875	0.90[EUR][1000 genomes]
rs35776201	0.87[EUR][1000 genomes]
rs36119782	0.95[EUR][1000 genomes]
rs4132044	0.85[EUR][1000 genomes]
rs4361612	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4367379	0.87[JPT][hapmap]
rs4373361	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs4379290	0.89[CEU][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs4432976	0.87[JPT][hapmap]
rs4580848	0.86[EUR][1000 genomes]
rs4615376	0.92[EUR][1000 genomes]
rs4711908	0.93[EUR][1000 genomes]
rs4711909	0.93[EUR][1000 genomes]
rs4711910	0.89[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs4715064	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs4715072	0.93[EUR][1000 genomes]
rs4715082	0.89[EUR][1000 genomes]
rs5002331	0.87[JPT][hapmap]
rs6458616	0.89[CEU][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs6924689	0.87[JPT][hapmap]
rs6932757	0.90[EUR][1000 genomes]
rs73368106	0.83[AFR][1000 genomes]
rs7451414	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs7738252	0.89[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs7748124	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7750023	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750099	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750120	0.91[EUR][1000 genomes]
rs7756776	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757631	0.83[AFR][1000 genomes]
rs7757960	0.83[ASW][hapmap];0.80[LWK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7762827	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs7775103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296592	0.89[CEU][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs9369768	0.87[JPT][hapmap]
rs9369779	0.84[ASN][1000 genomes]
rs9369815	0.87[JPT][hapmap]
rs9381636	0.87[JPT][hapmap]
rs9463377	0.89[CEU][hapmap];0.87[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs9463408	0.89[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs9463423	0.92[EUR][1000 genomes]
rs9473285	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9473354	0.93[EUR][1000 genomes]
rs9473370	0.89[EUR][1000 genomes]
rs9473427	0.88[EUR][1000 genomes]
rs9473436	0.90[EUR][1000 genomes]
rs9473437	0.87[JPT][hapmap]
rs9473486	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription 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 lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7743585	ERVFRDE1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13029800-13056400	Weak transcription	Pancreas	Pancrea
2	chr6:13030000-13056400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:13038200-13053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13039400-13054800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:13039400-13071600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:13040000-13058000	Weak transcription	Fetal Brain Male	brain
7	chr6:13040600-13048200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:13045000-13053000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:13045200-13050000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:13045200-13053400	Weak transcription	Brain Anterior Caudate	brain
11	chr6:13046400-13053000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:13046600-13052200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:13046800-13048200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:13046800-13048400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:13046800-13048400	Weak transcription	Esophagus	oesophagus
16	chr6:13046800-13048400	Weak transcription	K562	blood
17	chr6:13046800-13050000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:13047000-13048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:13047800-13048600	Enhancers	Fetal Heart	heart
20	chr6:13047800-13048600	Enhancers	Lung	lung
21	chr6:13047800-13048800	Enhancers	Left Ventricle	heart
22	chr6:13047800-13048800	Enhancers	NHDF-Ad	bronchial
23	chr6:13047800-13049000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:13048000-13048200	Enhancers	Right Ventricle	heart
25	chr6:13048000-13048400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:13048000-13048400	Weak transcription	Aorta	Aorta
27	chr6:13048000-13048800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:13048000-13048800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:13048000-13048800	Enhancers	NHEK	skin

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