Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:37909855..37912536-chr17:38125394..38127110,2	MCF-7	breast:
2	chr17:38125232..38127336-chr17:38133095..38135671,2	MCF-7	breast:
3	chr17:38125527..38127464-chr17:38136550..38138411,3	K562	blood:
4	chr17:38124965..38127375-chr17:38498648..38501455,2	K562	blood:
5	chr17:38121616..38123468-chr17:38125511..38128346,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10852937	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3859190	0.82[ASN][1000 genomes]
rs3916061	0.87[ASN][1000 genomes]
rs4082190	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs921651	0.89[ASN][1000 genomes]
rs9905305	0.85[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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4488488	GSDMA	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38110800-38128800	Weak transcription	Gastric	stomach
2	chr17:38111600-38126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38122200-38130600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:38122200-38130600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:38123800-38126600	Weak transcription	Spleen	Spleen
6	chr17:38124000-38127000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38124000-38128000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:38124000-38129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:38124000-38134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:38124800-38127000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr17:38124800-38127600	Enhancers	Fetal Intestine Small	intestine
12	chr17:38125000-38127200	Enhancers	Duodenum Mucosa	Duodenum
13	chr17:38125000-38127200	Enhancers	Fetal Intestine Large	intestine
14	chr17:38125200-38128400	Weak transcription	Primary B cells from cord blood	blood
15	chr17:38125400-38128000	Enhancers	Colonic Mucosa	Colon
16	chr17:38126000-38127000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr17:38126200-38126800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr17:38126200-38127800	Enhancers	Placenta	Placenta
19	chr17:38126400-38126600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr17:38126400-38128000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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