Variant report

Variant	rs17569638
Chromosome Location	chr12:43061401-43061402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11181530	1.00[CHB][hapmap]
rs12372194	1.00[AFR][1000 genomes]
rs73127549	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr12:43054200-43061800	Weak transcription	Psoas Muscle	Psoas
2	chr12:43056600-43069200	Weak transcription	Right Atrium	heart
3	chr12:43060000-43062200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:43060400-43064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:43060600-43063200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:43060800-43062000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:43060800-43062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:43061000-43061800	Weak transcription	Fetal Heart	heart
9	chr12:43061200-43061800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:43061200-43062600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:43061200-43062600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:43061200-43062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:43061200-43062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:43061200-43063200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:43061200-43067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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