Variant report

Variant	rs485243
Chromosome Location	chr2:30934168-30934169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30883151..30886759-chr2:30927667..30934469,9	K562	blood:
2	chr2:30929088..30931580-chr2:30932905..30934647,2	K562	blood:
3	chr2:30431361..30432292-chr2:30934156..30935149,5	K562	blood:
4	chr2:30313357..30314500-chr2:30934116..30934746,3	K562	blood:
5	chr2:30430501..30431863-chr2:30934111..30935142,7	MCF-7	breast:
6	chr2:30387116..30388637-chr2:30933978..30935733,30	MCF-7	breast:
7	chr2:30933909..30935269-chr2:31556183..31557206,10	MCF-7	breast:
8	chr2:30369928..30371534-chr2:30933807..30935926,2	MCF-7	breast:
9	chr2:30387510..30388527-chr2:30933984..30935142,9	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1252298	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs497707	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs514940	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs528264	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs528514	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs537833	0.85[EUR][1000 genomes]
rs540977	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs543134	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544395	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs546467	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547360	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs566241	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs578011	0.86[EUR][1000 genomes]
rs935984	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30926600-30935800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:30926800-30934800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:30930000-30934200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:30930000-30934400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:30930000-30936800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:30930000-30936800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:30930000-30936800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:30930000-30936800	Weak transcription	Osteobl	bone
10	chr2:30932000-30937200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:30932200-30934600	Weak transcription	Lung	lung
12	chr2:30932200-30937600	Weak transcription	NHDF-Ad	bronchial
13	chr2:30933200-30936800	Weak transcription	Fetal Heart	heart
14	chr2:30933400-30934400	Weak transcription	Stomach Smooth Muscle	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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