Variant report

Variant	rs2153575
Chromosome Location	chr6:49858594-49858595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1084052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs1417491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1970456	0.82[JPT][hapmap]
rs2396920	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3799689	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7743320	0.82[JPT][hapmap]
rs780553	0.92[EUR][1000 genomes]
rs780558	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49857800-49858600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr6:49857800-49860400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr6:49858000-49858600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr6:49858000-49858600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr6:49858000-49860200	Enhancers	K562	blood
6	chr6:49858200-49858600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:49858200-49858600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr6:49858200-49858800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:49858200-49859000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr6:49858200-49859000	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr6:49858200-49859400	Enhancers	Placenta	Placenta
12	chr6:49858200-49859600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:49858200-49860000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr6:49858400-49858600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr6:49858400-49858600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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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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