Variant report

Variant	rs61386020
Chromosome Location	chr3:47285522-47285523
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:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47205067..47206688-chr3:47285011..47286897,2	K562	blood:
2	chr3:47279696..47282501-chr3:47283361..47286390,3	K562	blood:
3	chr3:47285472..47289397-chr3:47290230..47292753,5	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-1	chr3:47284469-47285546	ENSG00000227398
2	lnc-KLHL18-1	chr3:47284469-47285606	NONHSAT089478
3	lnc-KLHL18-1	chr3:47284469-47285546	NONHSAT089479
4	lnc-KLHL18-1	chr3:47284469-47287987	NONHSAT089488
5	lnc-KLHL18-1	chr3:47284469-47288091	ENSG00000227398.3

No data

Variant related genes	Relation type
ENSG00000227398	Chromatin interaction
ENSG00000239128	Chromatin interaction
ENSG00000181555	Chromatin interaction

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

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

rs_ID	r²[population]
rs10490798	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130126	0.85[ASN][1000 genomes]
rs11915074	0.84[ASN][1000 genomes]
rs11920853	0.85[ASN][1000 genomes]
rs11921117	0.85[ASN][1000 genomes]
rs6768221	0.86[ASN][1000 genomes]

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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61386020	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47262800-47287400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:47264200-47322200	Weak transcription	Gastric	stomach
3	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:47267400-47287200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:47269800-47288400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:47270200-47288600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:47270600-47286800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:47272600-47288200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
12	chr3:47277000-47288200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:47277000-47292000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:47277600-47300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:47278400-47285800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:47279200-47286200	Weak transcription	Ovary	ovary
17	chr3:47279800-47288800	Weak transcription	Brain Substantia Nigra	brain
18	chr3:47282200-47287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:47282200-47291800	Weak transcription	HepG2	liver
20	chr3:47282200-47300400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:47282200-47300600	Weak transcription	Lung	lung
22	chr3:47282400-47285800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47282600-47292400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:47283400-47293200	Weak transcription	Psoas Muscle	Psoas
26	chr3:47284600-47285600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:47284600-47287400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:47284800-47286600	Strong transcription	Fetal Stomach	stomach
29	chr3:47284800-47300400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea

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