Variant report

Variant	rs6993530
Chromosome Location	chr8:130710135-130710136
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130709158..130713272-chr8:130716107..130718644,3	K562	blood:
2	chr8:130707905..130710506-chr8:130721790..130724532,3	K562	blood:
3	chr8:130709015..130711494-chr8:130712126..130713771,2	K562	blood:
4	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
5	chr8:130699826..130701651-chr8:130708566..130712426,4	K562	blood:
6	chr8:130700584..130702961-chr8:130710020..130711748,2	MCF-7	breast:
7	chr8:130709112..130710957-chr8:130718766..130720271,2	K562	blood:
8	chr8:130547962..130549604-chr8:130709178..130711041,2	MCF-7	breast:
9	chr8:130703853..130706502-chr8:130708490..130712451,4	K562	blood:

No data

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1010255	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11986284	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11994186	0.92[ASN][1000 genomes]
rs28496233	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903057	0.94[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.82[MKK][hapmap];0.90[ASN][1000 genomes]
rs4076445	0.84[ASN][1000 genomes]
rs4501553	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733723	0.93[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6470761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011037	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7011406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6993530	GSDMC	cis	Esophagus Mucosa	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130705800-130713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:130707200-130713200	Weak transcription	Fetal Lung	lung
3	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
4	chr8:130709400-130710800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130709400-130710800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130709400-130710800	Enhancers	HSMM	muscle
7	chr8:130709400-130710800	Enhancers	NH-A	brain
8	chr8:130709400-130710800	Enhancers	NHEK	skin
9	chr8:130709400-130710800	Enhancers	Osteobl	bone
10	chr8:130709400-130711400	Enhancers	A549	lung
11	chr8:130709600-130710600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:130709600-130710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:130709600-130710800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:130709600-130710800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:130709600-130710800	Enhancers	HMEC	breast
16	chr8:130709600-130710800	Enhancers	NHDF-Ad	bronchial
17	chr8:130709600-130710800	Enhancers	NHLF	lung
18	chr8:130709600-130711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:130709800-130710400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:130709800-130710600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:130709800-130710600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130709800-130710600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:130709800-130710800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:130709800-130710800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:130709800-130710800	Enhancers	HSMMtube	muscle
26	chr8:130709800-130711600	Enhancers	K562	blood
27	chr8:130710000-130710400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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