Variant report

Variant	rs12134278
Chromosome Location	chr1:57747117-57747118
allele	A/G
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:5)

rs_ID	r²[population]
rs12132898	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12136930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12144810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115761	1.00[CEU][hapmap]
rs61360301	0.88[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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57735200-57747200	Weak transcription	Esophagus	oesophagus
2	chr1:57741800-57749400	Enhancers	Fetal Intestine Small	intestine
3	chr1:57742000-57749200	Enhancers	Liver	Liver
4	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
5	chr1:57744400-57749600	Enhancers	Fetal Intestine Large	intestine
6	chr1:57744600-57751200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57745000-57747400	Enhancers	HMEC	breast
8	chr1:57745400-57747600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:57745400-57748200	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:57745600-57747400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:57745600-57748200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:57745800-57747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:57746000-57747600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:57746400-57747200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:57746400-57747400	Flanking Active TSS	HepG2	liver
16	chr1:57747000-57747800	Weak transcription	Fetal Brain Female	brain
17	chr1:57747000-57748200	Weak transcription	Cortex derived primary cultured neurospheres	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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