Variant report

Variant	rs57877849
Chromosome Location	chr2:64046547-64046548
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	chr2:64044766..64046674-chr2:64057658..64060630,2	MCF-7	breast:
2	chr2:64044260..64047678-chr2:64065821..64070525,5	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13431437	1.00[ASN][1000 genomes]
rs17028099	1.00[ASN][1000 genomes]
rs17554748	1.00[ASN][1000 genomes]
rs28838707	1.00[ASN][1000 genomes]
rs3924029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748575	1.00[ASN][1000 genomes]
rs56342040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57329063	1.00[ASN][1000 genomes]
rs57413391	1.00[ASN][1000 genomes]
rs57844293	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208651	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58422338	1.00[ASN][1000 genomes]
rs58472560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58495096	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540641	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136361	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136362	0.95[EUR][1000 genomes]
rs62136364	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136366	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136369	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136391	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136393	0.81[EUR][1000 genomes]
rs62136397	0.81[EUR][1000 genomes]
rs62136400	0.81[EUR][1000 genomes]
rs62136402	0.81[EUR][1000 genomes]
rs62137457	0.90[AMR][1000 genomes]
rs62138760	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138824	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745518	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6751397	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937260	1.00[ASN][1000 genomes]
rs73937264	1.00[ASN][1000 genomes]
rs73937268	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601187	1.00[ASN][1000 genomes]
rs7606341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64041800-64047000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:64041800-64054200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:64042000-64047000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:64042400-64046800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:64042400-64046800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:64042800-64046800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:64042800-64046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:64042800-64052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:64043000-64046600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:64043000-64047600	Weak transcription	NHLF	lung
11	chr2:64043800-64046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:64043800-64046800	Weak transcription	Psoas Muscle	Psoas
13	chr2:64043800-64046800	Weak transcription	NHDF-Ad	bronchial
14	chr2:64043800-64047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:64043800-64049400	Enhancers	Liver	Liver
16	chr2:64044000-64047000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:64044200-64046600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:64044200-64054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:64045200-64049200	Enhancers	HepG2	liver
20	chr2:64045600-64047000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:64045600-64047400	Weak transcription	Fetal Lung	lung
22	chr2:64045600-64054200	Weak transcription	HSMM	muscle
23	chr2:64045800-64046600	Weak transcription	Fetal Kidney	kidney
24	chr2:64045800-64047400	Weak transcription	HSMMtube	muscle
25	chr2:64046000-64047600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:64046000-64053600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:64046200-64047200	Enhancers	Adipose Nuclei	Adipose
28	chr2:64046400-64046800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:64046400-64047000	Enhancers	Aorta	Aorta
30	chr2:64046400-64047200	Enhancers	Right Atrium	heart
31	chr2:64046400-64048400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:64046400-64048800	Enhancers	Skeletal Muscle Male	skeletal muscle

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