Variant report

Variant	rs6933157
Chromosome Location	chr6:53586515-53586516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10456166	0.80[MEX][hapmap]
rs6932788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933301	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773640	0.81[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2421836	chr6:53581398-53591120	Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6933157	RPSAP52	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53582600-53588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:53582800-53588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:53583000-53590800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:53583800-53587600	Weak transcription	Pancreas	Pancrea
5	chr6:53583800-53588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:53583800-53588800	Weak transcription	Fetal Intestine Large	intestine
7	chr6:53584000-53588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:53584200-53590600	Weak transcription	Fetal Kidney	kidney
9	chr6:53584400-53589600	Weak transcription	Dnd41	blood
10	chr6:53584600-53588200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:53586400-53586800	Enhancers	H1 BMP4 Derived Trophoblast 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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