Variant report

Variant	rs1203011
Chromosome Location	chr14:56443673-56443674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1188175	0.94[ASN][1000 genomes]
rs1188176	0.94[ASN][1000 genomes]
rs1188179	0.94[ASN][1000 genomes]
rs1188180	0.94[ASN][1000 genomes]
rs1188181	0.94[ASN][1000 genomes]
rs1188203	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs1188204	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188206	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1203011	PSMC6	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56439200-56451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56440000-56444200	Enhancers	Stomach Mucosa	stomach
3	chr14:56440000-56446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:56440000-56446400	Enhancers	Brain Germinal Matrix	brain
5	chr14:56440800-56444000	Enhancers	Fetal Kidney	kidney
6	chr14:56441000-56443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:56441200-56445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:56441600-56445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56441800-56444800	Weak transcription	Pancreas	Pancrea
10	chr14:56442400-56444400	Enhancers	Fetal Muscle Leg	muscle
11	chr14:56442400-56444800	Enhancers	Ovary	ovary
12	chr14:56442400-56445200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:56442800-56446600	Enhancers	Brain Substantia Nigra	brain
14	chr14:56443000-56443800	Enhancers	Fetal Intestine Small	intestine
15	chr14:56443000-56443800	Enhancers	Fetal Stomach	stomach
16	chr14:56443000-56443800	Enhancers	Hela-S3	cervix
17	chr14:56443000-56444200	Enhancers	Fetal Heart	heart
18	chr14:56443000-56444600	Enhancers	Colon Smooth Muscle	Colon
19	chr14:56443000-56444600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:56443000-56446400	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:56443200-56444400	Enhancers	Small Intestine	intestine
22	chr14:56443400-56445200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:56443600-56443800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:56443600-56444000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:56443600-56444000	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:56443600-56444000	Active TSS	Rectal Smooth Muscle	rectum
27	chr14:56443600-56444200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:56443600-56444400	Enhancers	Fetal Lung	lung
29	chr14:56443600-56445000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:56443600-56445000	Enhancers	Fetal Brain Female	brain
31	chr14:56443600-56446200	Enhancers	Brain Anterior Caudate	brain
32	chr14:56443600-56446400	Enhancers	Brain Hippocampus Middle	brain
33	chr14:56443600-56446600	Enhancers	Brain Angular Gyrus	brain

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