Variant report

Variant	rs60873627
Chromosome Location	chr2:12153700-12153701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:12149476..12151758-chr2:12152643..12155527,2	K562	blood:
2	chr2:12146656..12149397-chr2:12152065..12154381,3	K562	blood:
3	chr2:12146656..12149397-chr2:12152065..12154039,2	K562	blood:

Variant related genes	Relation type
ENSG00000224184	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469736	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs12991902	1.00[ASN][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506780	1.00[ASN][1000 genomes]
rs34819724	1.00[ASN][1000 genomes]
rs34900642	1.00[ASN][1000 genomes]
rs35954069	1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs56260961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58143595	1.00[ASN][1000 genomes]
rs59609793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60195725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60510807	1.00[ASN][1000 genomes]
rs6708806	1.00[ASN][1000 genomes]
rs6715248	1.00[ASN][1000 genomes]
rs6715988	1.00[ASN][1000 genomes]
rs71446438	1.00[ASN][1000 genomes]
rs73915889	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915902	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918425	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918434	0.90[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 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	chr2:12147400-12154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:12147800-12153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:12149200-12154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:12149800-12154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:12150000-12153800	Weak transcription	NHDF-Ad	bronchial
6	chr2:12150000-12154000	Weak transcription	K562	blood
7	chr2:12150000-12154000	Weak transcription	Osteobl	bone
8	chr2:12150200-12153800	Weak transcription	NHLF	lung
9	chr2:12150400-12153800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:12150400-12153800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:12150400-12154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:12150800-12153800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:12151200-12153800	Weak transcription	HSMMtube	muscle
14	chr2:12151800-12154000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:12152800-12155000	Enhancers	GM12878-XiMat	blood
16	chr2:12153200-12153800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:12153600-12155000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:12153600-12155000	Enhancers	Primary B cells from cord blood	blood
19	chr2:12153600-12155600	Enhancers	HSMM	muscle

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