Variant report

Variant	rs59285318
Chromosome Location	chr1:57737558-57737559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11206974	1.00[EUR][1000 genomes]
rs12057381	1.00[EUR][1000 genomes]
rs12072428	1.00[EUR][1000 genomes]
rs6697460	1.00[EUR][1000 genomes]
rs74074905	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57735000-57740400	Strong transcription	Fetal Intestine Small	intestine
2	chr1:57735000-57742400	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57735200-57747200	Weak transcription	Esophagus	oesophagus
4	chr1:57735400-57737600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:57736000-57738400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57736400-57737600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:57737000-57737600	Flanking Active TSS	Liver	Liver
8	chr1:57737200-57737600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr1:57737200-57738000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:57737400-57741400	Weak transcription	Fetal Brain Male	brain
11	chr1:57737400-57746800	Weak transcription	Fetal Brain Female	brain

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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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