Variant report

Variant	rs62243065
Chromosome Location	chr3:20064649-20064650
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	chr3:20064524..20066130-chr3:20225214..20227213,2	K562	blood:
2	chr3:20001354..20003479-chr3:20064467..20066486,2	K562	blood:
3	chr3:20064379..20066103-chr3:20069480..20072008,2	MCF-7	breast:
4	chr3:20059399..20061509-chr3:20063864..20066520,2	K562	blood:
5	chr3:20061429..20064668-chr3:20080168..20082891,4	K562	blood:
6	chr3:20050259..20051981-chr3:20063056..20065911,2	K562	blood:
7	chr3:19990601..19993160-chr3:20063251..20065483,2	K562	blood:
8	chr3:20063707..20066137-chr3:20066791..20068854,2	K562	blood:
9	chr3:20053905..20056718-chr3:20064582..20067158,2	K562	blood:
10	chr3:20061429..20065762-chr3:20080168..20083220,6	K562	blood:
11	chr3:20063995..20066056-chr3:20077383..20080079,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129810	Chromatin interaction
ENSG00000144566	Chromatin interaction
ENSG00000229468	Chromatin interaction
ENSG00000114166	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10510497	1.00[ASN][1000 genomes]
rs12374092	1.00[ASN][1000 genomes]
rs12486167	1.00[ASN][1000 genomes]
rs12486526	1.00[ASN][1000 genomes]
rs12488378	1.00[ASN][1000 genomes]
rs12490848	1.00[ASN][1000 genomes]
rs12495866	1.00[ASN][1000 genomes]
rs12497549	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17181337	1.00[ASN][1000 genomes]
rs17796230	1.00[ASN][1000 genomes]
rs2365374	1.00[ASN][1000 genomes]
rs28597881	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2866630	1.00[ASN][1000 genomes]
rs4241539	1.00[ASN][1000 genomes]
rs4398451	1.00[ASN][1000 genomes]
rs45542931	1.00[ASN][1000 genomes]
rs4618239	1.00[ASN][1000 genomes]
rs4858116	1.00[ASN][1000 genomes]
rs4858632	1.00[ASN][1000 genomes]
rs4858662	1.00[ASN][1000 genomes]
rs4858664	1.00[ASN][1000 genomes]
rs4858674	1.00[ASN][1000 genomes]
rs55797296	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55892327	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56029370	1.00[ASN][1000 genomes]
rs62241279	1.00[ASN][1000 genomes]
rs62241280	1.00[ASN][1000 genomes]
rs62241285	1.00[ASN][1000 genomes]
rs62241286	0.87[ASN][1000 genomes]
rs62241289	1.00[ASN][1000 genomes]
rs62241295	1.00[ASN][1000 genomes]
rs62241316	1.00[ASN][1000 genomes]
rs62241322	1.00[ASN][1000 genomes]
rs62241326	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62241330	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62241333	1.00[ASN][1000 genomes]
rs62241334	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62241337	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62241338	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62241358	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62243074	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62243075	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62243076	1.00[ASN][1000 genomes]
rs73032477	1.00[ASN][1000 genomes]
rs73034166	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
7	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20056600-20080000	Weak transcription	Right Atrium	heart
2	chr3:20064000-20065800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:20064200-20065400	Flanking Active TSS	K562	blood
4	chr3:20064200-20065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:20064200-20066000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:20064400-20065000	Enhancers	HUVEC	blood vessel
7	chr3:20064400-20065200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:20064400-20065800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:20064400-20065800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:20064400-20065800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:20064400-20065800	Enhancers	Brain Substantia Nigra	brain
12	chr3:20064400-20065800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:20064400-20066000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:20064400-20066000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:20064400-20066000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:20064600-20065000	Enhancers	Stomach Smooth Muscle	stomach
17	chr3:20064600-20065400	Enhancers	Fetal Heart	heart
18	chr3:20064600-20065800	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:20064600-20065800	Enhancers	Brain Hippocampus Middle	brain
20	chr3:20064600-20065800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:20064600-20065800	Enhancers	Duodenum Mucosa	Duodenum
22	chr3:20064600-20065800	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:20064600-20066000	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:20064600-20066000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:20064600-20066000	Enhancers	Brain Angular Gyrus	brain
26	chr3:20064600-20066000	Enhancers	Fetal Intestine Large	intestine
27	chr3:20064600-20066000	Enhancers	Fetal Intestine Small	intestine
28	chr3:20064600-20066200	Enhancers	Adipose Nuclei	Adipose
29	chr3:20064600-20066600	Enhancers	Left Ventricle	heart

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