Variant report

Variant	rs12216831
Chromosome Location	chr8:125847357-125847358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125843629..125846063-chr8:125847021..125848938,2	K562	blood:
2	chr8:125832057..125834000-chr8:125846530..125849480,2	MCF-7	breast:
3	chr8:125831862..125834845-chr8:125847342..125849821,2	K562	blood:
4	chr8:125825958..125827774-chr8:125846394..125847974,2	K562	blood:
5	chr8:125826274..125829204-chr8:125846474..125849665,4	K562	blood:
6	chr8:125845588..125849228-chr8:125849730..125853632,5	MCF-7	breast:
7	chr8:125845457..125848050-chr8:125858853..125861361,2	MCF-7	breast:
8	chr8:125846878..125850160-chr8:125852812..125855632,3	K562	blood:
9	chr8:125841473..125844398-chr8:125845586..125849365,3	MCF-7	breast:
10	chr8:125844772..125847545-chr8:125849110..125851069,2	K562	blood:
11	chr8:125847137..125849263-chr8:125851219..125853142,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000263735	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10087033	0.95[ASN][1000 genomes]
rs12216828	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216874	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923682	0.95[ASN][1000 genomes]
rs56804406	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs59110728	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6470287	1.00[JPT][hapmap]
rs66657825	0.95[ASN][1000 genomes]
rs67259800	0.95[ASN][1000 genomes]
rs72716983	0.95[ASN][1000 genomes]
rs7461109	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649956	1.00[JPT][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv528288	chr8:125838127-125847357	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12216831	KLHL38	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125836400-125850800	Weak transcription	Right Atrium	heart
2	chr8:125845000-125847400	Enhancers	Fetal Brain Male	brain
3	chr8:125845000-125847600	Enhancers	Fetal Muscle Leg	muscle
4	chr8:125845200-125847600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:125845400-125847800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:125845600-125847800	Enhancers	Brain Germinal Matrix	brain
7	chr8:125845600-125849800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:125845800-125847400	Enhancers	Fetal Brain Female	brain
9	chr8:125845800-125847400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:125846000-125848000	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:125846000-125852200	Weak transcription	K562	blood
12	chr8:125846200-125847600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:125846200-125847800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:125846200-125848400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:125846400-125847400	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:125846400-125847400	Enhancers	Fetal Heart	heart
17	chr8:125846400-125847400	Enhancers	Fetal Lung	lung
18	chr8:125846400-125847400	Enhancers	Rectal Smooth Muscle	rectum
19	chr8:125846400-125847600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:125846400-125847600	Enhancers	Brain Anterior Caudate	brain
21	chr8:125846400-125847800	Enhancers	Brain Angular Gyrus	brain
22	chr8:125846400-125848000	Enhancers	Brain Substantia Nigra	brain
23	chr8:125846600-125847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:125846600-125847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:125846600-125847800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:125846600-125848400	Enhancers	Right Ventricle	heart
27	chr8:125846600-125850000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:125846800-125847400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:125846800-125847400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:125846800-125847400	Enhancers	Adipose Nuclei	Adipose
31	chr8:125846800-125847400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:125846800-125847400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr8:125846800-125847400	Enhancers	HMEC	breast
34	chr8:125846800-125847600	Flanking Active TSS	HepG2	liver
35	chr8:125846800-125848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:125846800-125848400	Enhancers	Pancreas	Pancrea
37	chr8:125847000-125848600	Weak transcription	Placenta	Placenta
38	chr8:125847000-125852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:125847000-125853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:125847200-125848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:125847200-125848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:125847200-125852400	Weak transcription	Left Ventricle	heart
43	chr8:125847200-125852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:125847200-125854800	Weak transcription	Esophagus	oesophagus
45	chr8:125847200-125855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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