Variant report

Variant	rs10110525
Chromosome Location	chr8:130719871-130719872
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130699308..130701478-chr8:130717660..130720655,2	K562	blood:
2	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:
3	chr8:130717351..130718895-chr8:130719468..130721279,2	K562	blood:
4	chr8:130701843..130703503-chr8:130719583..130721644,2	K562	blood:
5	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:
6	chr8:130709112..130710957-chr8:130718766..130720271,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10104593	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4144736	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4144737	0.84[CEU][hapmap]
rs4144738	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4236747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4335095	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4345520	0.89[EUR][1000 genomes]
rs4425724	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4518624	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][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];0.97[EUR][1000 genomes]
rs4733728	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
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];0.96[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	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[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
rs10110525	GSDMC	cis	Esophagus Mucosa	GTEx
rs10110525	GSDMC	cis	Muscle Skeletal	GTEx
rs10110525	MLZE	cis	uninvolved skin	skin_eQTL
rs10110525	MLZE	cis	lesional skin	skin_eQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
3	chr8:130714600-130720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:130714600-130720000	Weak transcription	Fetal Stomach	stomach
5	chr8:130714600-130720000	Weak transcription	HSMM	muscle
6	chr8:130716800-130720000	Weak transcription	Fetal Lung	lung
7	chr8:130716800-130720200	Weak transcription	Fetal Kidney	kidney
8	chr8:130717000-130720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:130717000-130720000	Weak transcription	Fetal Intestine Large	intestine
10	chr8:130717000-130720200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:130717000-130720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:130719000-130720000	Enhancers	NHEK	skin
13	chr8:130719000-130720200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:130719000-130723200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:130719200-130720000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:130719200-130720000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:130719200-130720000	Enhancers	NH-A	brain
18	chr8:130719200-130720000	Enhancers	Osteobl	bone
19	chr8:130719200-130720800	Enhancers	Dnd41	blood
20	chr8:130719200-130721000	Flanking Active TSS	HUVEC	blood vessel
21	chr8:130719200-130721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:130719200-130723400	Enhancers	HMEC	breast
23	chr8:130719200-130723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:130719200-130723800	Flanking Active TSS	A549	lung
25	chr8:130719400-130720000	Enhancers	Hela-S3	cervix
26	chr8:130719400-130721200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:130719600-130720000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:130719600-130723400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:130719800-130720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:130719800-130720200	Enhancers	NHLF	lung
31	chr8:130719800-130721600	Enhancers	Fetal Intestine Small	intestine
32	chr8:130719800-130721800	Enhancers	Fetal Heart	heart
33	chr8:130719800-130723600	Enhancers	NHDF-Ad	bronchial
34	chr8:130719800-130725600	Enhancers	K562	blood

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