Variant report

Variant	rs7004355
Chromosome Location	chr8:130742223-130742224
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	chr8:130738688..130740229-chr8:130741129..130743486,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-16	chr8:130742037-130742257	NONHSAT129131

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10092783	0.84[AMR][1000 genomes]
rs10104593	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110525	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1074286	0.87[ASN][1000 genomes]
rs10808583	0.85[ASN][1000 genomes]
rs10956490	0.83[ASN][1000 genomes]
rs11984666	0.87[ASN][1000 genomes]
rs12678545	0.86[AMR][1000 genomes]
rs2062078	0.87[ASN][1000 genomes]
rs3886937	0.86[ASN][1000 genomes]
rs3886938	0.87[ASN][1000 genomes]
rs4130415	0.86[ASN][1000 genomes]
rs4144736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144737	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4144738	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236747	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4335095	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345520	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425724	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4518624	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4571702	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733557	0.83[AMR][1000 genomes]
rs4733724	0.85[ASN][1000 genomes]
rs4733725	0.85[ASN][1000 genomes]
rs4733726	0.87[ASN][1000 genomes]
rs4733727	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733728	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733729	0.89[AMR][1000 genomes]
rs4733734	0.90[AMR][1000 genomes]
rs5006712	0.87[EUR][1000 genomes]
rs60228607	0.87[ASN][1000 genomes]
rs6470763	0.85[ASN][1000 genomes]
rs6470764	0.83[ASN][1000 genomes]
rs6470765	0.87[ASN][1000 genomes]
rs6651255	0.86[ASN][1000 genomes]
rs6985118	0.87[ASN][1000 genomes]
rs6986256	0.87[ASN][1000 genomes]
rs7341636	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7388479	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814941	0.85[ASN][1000 genomes]
rs7815955	0.85[ASN][1000 genomes]
rs7816131	0.85[ASN][1000 genomes]
rs7816342	0.86[ASN][1000 genomes]
rs7816625	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822056	0.89[AMR][1000 genomes]
rs7826493	0.89[ASN][1000 genomes]
rs7828785	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841981	0.87[ASN][1000 genomes]
rs7846627	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7004355	GSDMC	cis	Esophagus Mucosa	GTEx
rs7004355	GSDMC	cis	Muscle Skeletal	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130735400-130742600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:130738200-130744200	Weak transcription	Esophagus	oesophagus
3	chr8:130739200-130742600	Weak transcription	Osteobl	bone
4	chr8:130739200-130742800	Weak transcription	A549	lung
5	chr8:130740000-130745000	Weak transcription	Spleen	Spleen
6	chr8:130742000-130743000	Flanking Active TSS	NHEK	skin
7	chr8:130742000-130743200	Enhancers	NHLF	lung
8	chr8:130742000-130743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:130742000-130743800	Enhancers	HMEC	breast
10	chr8:130742000-130744200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:130742200-130742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:130742200-130743000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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