Variant report

Variant	rs12489420
Chromosome Location	chr3:46561934-46561935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46560478..46563020-chr3:46565942..46567464,2	K562	blood:
2	chr3:46537199..46540103-chr3:46560857..46564273,3	K562	blood:
3	chr3:46560786..46563399-chr3:46568706..46571436,2	K562	blood:

Variant related genes	Relation type
ENSG00000163825	Chromatin interaction

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

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

rs_ID	r²[population]
rs11720094	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17030627	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6775724	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
2	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
3	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
4	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:46555000-46567800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
9	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:46558000-46571400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:46558400-46562200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:46558400-46567800	Weak transcription	Spleen	Spleen
13	chr3:46558400-46591000	Weak transcription	Gastric	stomach
14	chr3:46558600-46563400	Weak transcription	K562	blood
15	chr3:46558800-46568000	Weak transcription	Primary T cells from cord blood	blood
16	chr3:46559000-46562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:46559000-46580000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:46559400-46578000	Weak transcription	HSMMtube	muscle
19	chr3:46559600-46562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:46559600-46562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:46559600-46562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:46559600-46567800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:46559600-46568000	Weak transcription	NHDF-Ad	bronchial
24	chr3:46559600-46573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:46559800-46562000	Weak transcription	HMEC	breast
26	chr3:46559800-46562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:46559800-46580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:46560200-46574600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:46560600-46562800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:46560800-46562600	Strong transcription	Left Ventricle	heart
31	chr3:46560800-46569000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:46561200-46562000	Weak transcription	Ovary	ovary
33	chr3:46561200-46567800	Weak transcription	Liver	Liver
34	chr3:46561800-46562000	Enhancers	HUVEC	blood vessel
35	chr3:46561800-46562200	Enhancers	NHEK	skin
36	chr3:46561800-46568200	Weak transcription	Fetal Muscle Trunk	muscle

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