Variant report

Variant	rs4518624
Chromosome Location	chr8:130715510-130715511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:128747612..128750139-chr8:130714073..130716567,2	K562	blood:
2	chr8:130715407..130717008-chr8:130717100..130719495,2	MCF-7	breast:
3	chr8:128747612..128749495-chr8:130715067..130717561,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-3	chr8:130715458-130715825	NONHSAT129111

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10092783	0.95[GIH][hapmap];0.82[TSI][hapmap]
rs10104593	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10110525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16904150	0.88[LWK][hapmap]
rs4144736	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4144737	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs4144738	0.89[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4236747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4285452	0.86[GIH][hapmap]
rs4335095	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4345520	0.89[EUR][1000 genomes]
rs4425724	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4571702	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733727	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4733728	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4733729	0.88[ASW][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap]
rs4994386	0.82[AMR][1000 genomes]
rs7004355	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7341636	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7388479	0.81[EUR][1000 genomes]
rs7816625	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7828785	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7846627	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4518624	GSDMC	cis	Muscle Skeletal	GTEx
rs4518624	GSDMC	cis	Esophagus Mucosa	GTEx
rs4518624	MLZE	cis	uninvolved skin	skin_eQTL
rs4518624	MLZE	cis	lesional skin	skin_eQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:130710800-130719800	Weak transcription	NHLF	lung
9	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
10	chr8:130711400-130716000	Weak transcription	A549	lung
11	chr8:130714200-130716400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:130714400-130716400	Weak transcription	Fetal Kidney	kidney
13	chr8:130714600-130716400	Weak transcription	Fetal Lung	lung
14	chr8:130714600-130719800	Weak transcription	K562	blood
15	chr8:130714600-130720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:130714600-130720000	Weak transcription	Fetal Stomach	stomach
17	chr8:130714600-130720000	Weak transcription	HSMM	muscle
18	chr8:130715400-130715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:130715400-130715600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:130715400-130716600	Enhancers	Fetal Muscle Leg	muscle
21	chr8:130715400-130717000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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