Variant report

Variant	rs7833174
Chromosome Location	chr8:130718772-130718773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130717351..130718895-chr8:130719468..130721279,2	K562	blood:
2	chr8:130715407..130717008-chr8:130717100..130719495,2	MCF-7	breast:
3	chr8:130699308..130701478-chr8:130717660..130720655,2	K562	blood:
4	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:
5	chr8:130711772..130714340-chr8:130717144..130719006,2	K562	blood:
6	chr8:130709112..130710957-chr8:130718766..130720271,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-3	chr8:130718657-130718852	NONHSAT129129

No data

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1074286	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808583	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956490	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11984666	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2062078	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886937	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3886938	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4144736	0.84[CHB][hapmap]
rs4144738	0.83[CHB][hapmap]
rs4425724	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs4733724	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733725	0.86[ASN][1000 genomes]
rs4733726	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733732	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs60228607	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470763	0.90[ASN][1000 genomes]
rs6470764	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470765	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470766	0.80[CEU][hapmap]
rs6470768	0.81[CEU][hapmap]
rs6651255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985118	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6986256	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6994279	0.81[CEU][hapmap]
rs6998296	0.81[CEU][hapmap]
rs7011557	0.81[CEU][hapmap]
rs7012249	0.81[CEU][hapmap]
rs7814941	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7815955	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7816131	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7816342	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7826493	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7841981	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846627	0.83[CHB][hapmap];0.80[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7833174	MLZE	cis	lesional skin	skin_eQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130710800-130719800	Weak transcription	NHLF	lung
7	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
8	chr8:130714600-130719800	Weak transcription	K562	blood
9	chr8:130714600-130720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:130714600-130720000	Weak transcription	Fetal Stomach	stomach
11	chr8:130714600-130720000	Weak transcription	HSMM	muscle
12	chr8:130716600-130719800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:130716800-130720000	Weak transcription	Fetal Lung	lung
14	chr8:130716800-130720200	Weak transcription	Fetal Kidney	kidney
15	chr8:130717000-130719200	ZNF genes & repeats	A549	lung
16	chr8:130717000-130720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:130717000-130720000	Weak transcription	Fetal Intestine Large	intestine
18	chr8:130717000-130720200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:130717000-130720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:130718000-130719200	Enhancers	HUVEC	blood vessel

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