Variant report

Variant	rs12049300
Chromosome Location	chr1:170459435-170459436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10157186	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800525	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919415	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021752	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12033765	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12037010	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12562422	0.83[ASN][1000 genomes]
rs16863354	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16863425	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1930635	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1930636	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656767	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4656778	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56066714	0.83[ASN][1000 genomes]
rs60913293	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826201	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6427247	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6688821	0.81[CHB][hapmap];0.82[JPT][hapmap]

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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170457200-170460200	Weak transcription	Dnd41	blood
2	chr1:170457200-170462800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:170457600-170459600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:170457600-170459800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:170457600-170460400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:170457800-170460000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:170457800-170460400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:170459000-170461000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:170459200-170461200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:170459400-170459800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:170459400-170461000	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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