Variant report

Variant	rs55990714
Chromosome Location	chr3:46567520-46567521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46567191..46569704-chr3:46574346..46575998,2	K562	blood:
2	chr3:46565864..46568111-chr3:46586366..46589191,2	K562	blood:
3	chr3:46564865..46566399-chr3:46567048..46569066,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12492797	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814973	0.84[ASN][1000 genomes]
rs1879328	0.89[ASN][1000 genomes]
rs2888531	0.84[ASN][1000 genomes]
rs34334514	0.87[ASN][1000 genomes]
rs34478154	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34504121	0.87[ASN][1000 genomes]
rs35714147	0.87[ASN][1000 genomes]
rs4683243	0.89[ASN][1000 genomes]
rs55786118	0.89[ASN][1000 genomes]
rs59264692	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67227548	0.86[ASN][1000 genomes]
rs67814017	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6791703	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68018913	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7428292	0.89[ASN][1000 genomes]
rs7621549	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7632776	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827559	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9839075	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9848284	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
3	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:46555000-46567800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
8	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:46558000-46571400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:46558400-46567800	Weak transcription	Spleen	Spleen
11	chr3:46558400-46591000	Weak transcription	Gastric	stomach
12	chr3:46558800-46568000	Weak transcription	Primary T cells from cord blood	blood
13	chr3:46559000-46580000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:46559400-46578000	Weak transcription	HSMMtube	muscle
15	chr3:46559600-46567800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:46559600-46568000	Weak transcription	NHDF-Ad	bronchial
17	chr3:46559600-46573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:46559800-46580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:46560200-46574600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:46560800-46569000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:46561200-46567800	Weak transcription	Liver	Liver
22	chr3:46561800-46568200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:46562400-46578800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:46562600-46567800	Weak transcription	Left Ventricle	heart
25	chr3:46562600-46567800	Weak transcription	Ovary	ovary
26	chr3:46562600-46568000	Weak transcription	Right Ventricle	heart
27	chr3:46562600-46570200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:46562600-46572600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:46562600-46578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:46562800-46567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:46562800-46568400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:46562800-46568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:46566200-46577600	Weak transcription	Fetal Thymus	thymus
34	chr3:46567200-46567600	Weak transcription	K562	blood
35	chr3:46567200-46586000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:46567400-46568200	Weak transcription	Fetal Stomach	stomach

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