Variant report

Variant	rs4715166
Chromosome Location	chr6:13216058-13216059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13215378..13217758-chr6:13218972..13222173,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1008462	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10948546	0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12205644	0.82[ASW][hapmap];0.92[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2840336	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711939	0.85[CHB][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4715156	0.83[CEU][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4715167	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715169	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6458720	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928740	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7749528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9942440	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

Variant related diseases (count:1)

Disease	PMID	Source
Hip geometry	17903296	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4715166	ERVFRDE1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
4	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
5	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:13201400-13216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:13202400-13218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:13203000-13216800	Weak transcription	Adipose Nuclei	Adipose
9	chr6:13203200-13230200	Weak transcription	Fetal Stomach	stomach
10	chr6:13203600-13217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:13205400-13217400	Weak transcription	HSMM	muscle
12	chr6:13206400-13217400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:13206400-13229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:13206400-13230000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:13207800-13217400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:13208000-13217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:13208200-13216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:13208200-13217400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:13208200-13217400	Weak transcription	Pancreas	Pancrea
20	chr6:13208200-13239800	Weak transcription	Brain Substantia Nigra	brain
21	chr6:13208400-13230200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:13208600-13217400	Weak transcription	Left Ventricle	heart
23	chr6:13209600-13216600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:13209600-13217000	Weak transcription	HUVEC	blood vessel
25	chr6:13212200-13216800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:13212400-13229800	Weak transcription	Right Ventricle	heart
27	chr6:13213200-13219600	Weak transcription	Lung	lung
28	chr6:13213400-13217400	Weak transcription	Aorta	Aorta
29	chr6:13213400-13217400	Weak transcription	Gastric	stomach
30	chr6:13213400-13230000	Weak transcription	Fetal Brain Female	brain
31	chr6:13213800-13217400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:13214000-13227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:13214400-13216800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:13215400-13217600	Enhancers	Fetal Heart	heart
35	chr6:13215400-13219000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:13215600-13216400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:13215600-13216600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:13215600-13217400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr6:13215800-13218200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:13215800-13218200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:13215800-13218400	Enhancers	Stomach Mucosa	stomach

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