Variant report

Variant	rs55704223
Chromosome Location	chr2:64294566-64294567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10171434	0.88[AFR][1000 genomes]
rs10186026	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13429947	0.88[ASN][1000 genomes]
rs17028360	0.85[AFR][1000 genomes]
rs60012302	0.94[ASN][1000 genomes]
rs7560803	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr2:64290600-64294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:64291000-64294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:64291200-64294600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr2:64292400-64294600	Weak transcription	Thymus	Thymus
5	chr2:64293000-64295000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:64293000-64295000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:64293400-64294800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:64293400-64295000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:64293400-64300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:64293800-64299200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:64293800-64300200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:64294000-64294800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:64294200-64294800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:64294200-64294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:64294200-64294800	Enhancers	K562	blood
16	chr2:64294400-64294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:64294400-64294600	Enhancers	Placenta	Placenta
18	chr2:64294400-64294800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:64294400-64298800	Weak transcription	ES-UCSF4 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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