Variant report

Variant	rs62263605
Chromosome Location	chr3:105144311-105144312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105141327..105143010-chr3:105143425..105146053,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1038522	0.93[ASN][1000 genomes]
rs1044240	0.87[ASN][1000 genomes]
rs11714319	0.93[ASN][1000 genomes]
rs2049217	0.87[ASN][1000 genomes]
rs3772557	0.87[ASN][1000 genomes]
rs57834585	0.86[AFR][1000 genomes]
rs62260776	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62260827	0.87[ASN][1000 genomes]
rs62262969	0.87[ASN][1000 genomes]
rs62263560	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62263608	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6437589	0.86[AFR][1000 genomes]
rs6437601	0.87[ASN][1000 genomes]
rs6764212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6765258	0.87[ASN][1000 genomes]
rs6778460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6804574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175483	0.87[ASN][1000 genomes]
rs73175493	0.87[ASN][1000 genomes]
rs73189010	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621905	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842028	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv877304	chr3:105122214-105198374	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105134400-105145400	Weak transcription	Brain Angular Gyrus	brain
2	chr3:105135000-105145800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:105135200-105152000	Weak transcription	NH-A	brain
4	chr3:105137200-105145400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:105137200-105147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:105137200-105149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:105137400-105149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:105137400-105178600	Weak transcription	Primary B cells from cord blood	blood
9	chr3:105139400-105147400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:105141600-105147600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:105141800-105145800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:105142200-105147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:105143000-105147400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:105143400-105144400	Enhancers	A549	lung
15	chr3:105143600-105144800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:105143800-105145800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:105144000-105144400	Enhancers	Aorta	Aorta
18	chr3:105144000-105146600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:105144200-105144400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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