Variant report

Variant	rs4994386
Chromosome Location	chr8:130714826-130714827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10092783	0.85[EUR][1000 genomes]
rs10110525	0.82[AMR][1000 genomes]
rs12678545	0.82[EUR][1000 genomes]
rs4236747	0.82[AMR][1000 genomes]
rs4452769	0.84[ASN][1000 genomes]
rs4518624	0.82[AMR][1000 genomes]
rs4582526	0.94[EUR][1000 genomes]
rs4733557	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4733729	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4733734	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7822056	0.91[AFR][1000 genomes];0.85[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4994386	GSDMC	cis	Esophagus Mucosa	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710400-130715400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130710800-130719800	Weak transcription	NHLF	lung
10	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
11	chr8:130711400-130716000	Weak transcription	A549	lung
12	chr8:130714200-130716400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:130714400-130716400	Weak transcription	Fetal Kidney	kidney
14	chr8:130714600-130715400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:130714600-130716400	Weak transcription	Fetal Lung	lung
16	chr8:130714600-130719800	Weak transcription	K562	blood
17	chr8:130714600-130720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:130714600-130720000	Weak transcription	Fetal Stomach	stomach
19	chr8:130714600-130720000	Weak transcription	HSMM	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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