Variant report

Variant	rs666542
Chromosome Location	chr4:144223201-144223202
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	chr4:144212380..144214607-chr4:144221526..144224091,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10012713	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028909	0.87[ASN][1000 genomes]
rs10033104	0.82[AMR][1000 genomes]
rs11947952	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12643013	0.93[ASN][1000 genomes]
rs13118846	0.93[ASN][1000 genomes]
rs13129434	0.87[ASN][1000 genomes]
rs13137362	0.87[ASN][1000 genomes]
rs1440412	0.84[AMR][1000 genomes]
rs1532981	0.93[ASN][1000 genomes]
rs300894	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs300899	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs300901	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs300902	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs300903	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs300913	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300914	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300915	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300917	0.86[EUR][1000 genomes]
rs300921	0.84[AMR][1000 genomes]
rs300924	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs300925	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs300927	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs300929	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs300940	0.83[AMR][1000 genomes]
rs300941	0.83[AMR][1000 genomes]
rs300943	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300946	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300949	0.84[EUR][1000 genomes]
rs300951	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs300953	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs476417	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs592349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624170	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6537152	0.87[ASN][1000 genomes]
rs6537153	0.92[ASN][1000 genomes]
rs6823434	0.87[ASN][1000 genomes]
rs6840603	0.95[ASN][1000 genomes]
rs7655782	0.93[ASN][1000 genomes]
rs7690761	0.93[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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144216800-144223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:144216800-144223400	Weak transcription	Fetal Lung	lung
3	chr4:144216800-144223600	Weak transcription	Fetal Stomach	stomach
4	chr4:144216800-144223800	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:144219400-144223800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:144220800-144223400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:144222600-144223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:144222600-144223800	Weak transcription	Aorta	Aorta
9	chr4:144222600-144227000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:144222600-144228600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:144222800-144224000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:144222800-144224800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:144223000-144224400	Enhancers	Adipose Nuclei	Adipose
14	chr4:144223200-144223600	Weak transcription	Fetal Muscle Trunk	muscle

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