Variant report

Variant	rs2888531
Chromosome Location	chr3:46572462-46572463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46571863..46574043-chr3:46575546..46577430,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12492797	0.84[ASN][1000 genomes]
rs1814973	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1879328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34334514	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34478154	0.84[ASN][1000 genomes]
rs34504121	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35714147	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4521278	0.82[EUR][1000 genomes]
rs4683241	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4683242	0.96[EUR][1000 genomes]
rs4683243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55786118	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55990714	0.84[ASN][1000 genomes]
rs59244195	0.87[EUR][1000 genomes]
rs59264692	0.84[ASN][1000 genomes]
rs60983021	0.87[EUR][1000 genomes]
rs6442000	0.91[EUR][1000 genomes]
rs67227548	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6774189	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67814017	0.82[ASN][1000 genomes]
rs6791703	0.84[ASN][1000 genomes]
rs6791941	0.87[EUR][1000 genomes]
rs68018913	0.82[ASN][1000 genomes]
rs72900270	0.80[EUR][1000 genomes]
rs72900281	0.87[EUR][1000 genomes]
rs7428292	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621549	0.84[ASN][1000 genomes]
rs7632776	0.85[ASN][1000 genomes]
rs7643332	0.87[EUR][1000 genomes]
rs867619	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883738	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883740	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9827559	0.84[ASN][1000 genomes]
rs9839075	0.85[ASN][1000 genomes]
rs9848284	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 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	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
7	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46558400-46591000	Weak transcription	Gastric	stomach
9	chr3:46559000-46580000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:46559400-46578000	Weak transcription	HSMMtube	muscle
11	chr3:46559600-46573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:46559800-46580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:46560200-46574600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:46562400-46578800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:46562600-46572600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:46562600-46578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:46566200-46577600	Weak transcription	Fetal Thymus	thymus
18	chr3:46567200-46586000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:46567800-46574000	Strong transcription	Ovary	ovary
20	chr3:46567800-46574400	Strong transcription	Left Ventricle	heart
21	chr3:46568000-46578600	Weak transcription	Spleen	Spleen
22	chr3:46568400-46572800	Weak transcription	K562	blood
23	chr3:46568800-46572600	Weak transcription	HMEC	breast
24	chr3:46568800-46578000	Weak transcription	Primary T cells from cord blood	blood
25	chr3:46569000-46572800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:46569000-46572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:46569000-46577800	Weak transcription	Right Ventricle	heart
28	chr3:46569000-46578800	Weak transcription	Liver	Liver
29	chr3:46569000-46584200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:46569200-46578400	Weak transcription	NHDF-Ad	bronchial
31	chr3:46569600-46580200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:46569800-46577400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:46570600-46573200	Enhancers	NHEK	skin
34	chr3:46571000-46583800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:46571400-46572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:46571400-46572800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:46571600-46572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:46571600-46578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr3:46571600-46587000	Weak transcription	Brain Inferior Temporal Lobe	brain

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