Variant report

Variant	rs62248851
Chromosome Location	chr3:42724894-42724895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:42724483-42726606	K562	blood:	n/a	chr3:42725654-42725664 chr3:42725654-42725664 chr3:42725572-42725582 chr3:42725572-42725582 chr3:42725656-42725667 chr3:42725572-42725582 chr3:42725573-42725581 chr3:42725655-42725663 chr3:42725654-42725664 chr3:42725572-42725582

No.	Distal block	Cell Line	Cell type
1	chr3:42724857..42728583-chr3:42742957..42746730,4	K562	blood:
2	chr3:42694748..42699561-chr3:42722251..42726025,6	K562	blood:
3	chr3:42709626..42711413-chr3:42723979..42726333,2	MCF-7	breast:
4	chr3:42720527..42722728-chr3:42723710..42726104,2	MCF-7	breast:
5	chr3:42709094..42711922-chr3:42723426..42725135,3	K562	blood:
6	chr3:42717924..42720183-chr3:42723570..42725639,2	K562	blood:

Variant related genes	Relation type
KLHL40	TF binding region
ENSG00000240203	Chromatin interaction
ENSG00000010282	Chromatin interaction
ENSG00000230084	Chromatin interaction
ENSG00000114853	Chromatin interaction
ENSG00000230970	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11712706	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4371488	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9647353	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42720200-42725000	Weak transcription	Right Ventricle	heart
2	chr3:42722400-42725000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:42722400-42725000	Weak transcription	NH-A	brain
4	chr3:42722400-42725800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:42722600-42725000	Weak transcription	NHLF	lung
6	chr3:42724000-42726400	Enhancers	Placenta	Placenta
7	chr3:42724200-42725200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr3:42724200-42725400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr3:42724200-42726200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:42724200-42726200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:42724200-42726200	Enhancers	Fetal Muscle Leg	muscle
12	chr3:42724200-42727000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:42724200-42727000	Enhancers	HSMMtube	muscle
14	chr3:42724200-42727400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:42724200-42727400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:42724200-42729400	Enhancers	Fetal Heart	heart
17	chr3:42724400-42725000	Weak transcription	Left Ventricle	heart
18	chr3:42724400-42725200	Bivalent Enhancer	HepG2	liver
19	chr3:42724400-42726400	Enhancers	Aorta	Aorta
20	chr3:42724400-42726600	Enhancers	Brain Anterior Caudate	brain
21	chr3:42724400-42726800	Enhancers	Brain Angular Gyrus	brain
22	chr3:42724600-42725000	Weak transcription	Psoas Muscle	Psoas
23	chr3:42724600-42725000	Enhancers	Hela-S3	cervix
24	chr3:42724600-42725400	Enhancers	Brain Substantia Nigra	brain
25	chr3:42724600-42726200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:42724600-42727200	Enhancers	Brain Hippocampus Middle	brain
27	chr3:42724800-42725000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:42724800-42725000	Strong transcription	Right Atrium	heart
29	chr3:42724800-42725000	Enhancers	Osteobl	bone
30	chr3:42724800-42725200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:42724800-42725200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:42724800-42725200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:42724800-42725200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr3:42724800-42725400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:42724800-42725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:42724800-42726400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:42724800-42726400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:42724800-42726400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:42724800-42726400	Enhancers	HMEC	breast
40	chr3:42724800-42726400	Enhancers	K562	blood
41	chr3:42724800-42726400	Enhancers	NHDF-Ad	bronchial
42	chr3:42724800-42726400	Enhancers	NHEK	skin
43	chr3:42724800-42726600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:42724800-42727000	Enhancers	HSMM	muscle

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