Variant report

rSNPs within LD-proxies of this variant (count:7)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1031672	chr8:52872448-52917469	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020673	chr8:52878946-52917469	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60882754	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52885800-52887000	Active TSS	Fetal Intestine Large	intestine
2	chr8:52886000-52886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:52886000-52886800	Enhancers	Fetal Lung	lung
4	chr8:52886000-52886800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:52886000-52886800	Flanking Active TSS	HepG2	liver
6	chr8:52886000-52886800	Enhancers	HUVEC	blood vessel
7	chr8:52886200-52886800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:52886200-52886800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr8:52886200-52886800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:52886200-52886800	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:52886200-52886800	Enhancers	Small Intestine	intestine
12	chr8:52886400-52886800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:52886600-52886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:52886600-52886800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:52886600-52886800	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr8:52886600-52886800	Enhancers	Fetal Kidney	kidney
17	chr8:52886600-52886800	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr8:52886600-52886800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:52886600-52886800	Active TSS	Stomach Smooth Muscle	stomach
20	chr8:52886600-52887000	Active TSS	Pancreas	Pancrea
21	chr8:52886600-52887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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