Variant report

Variant	rs12754753
Chromosome Location	chr1:210710343-210710344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12122837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124286	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130516	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12131405	0.84[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12139453	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12142819	0.83[AMR][1000 genomes]
rs17188344	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17188367	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[AMR][1000 genomes]
rs2357920	0.86[CHD][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes]
rs34226838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34542042	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4132902	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4344331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv988198	chr1:210707300-210716552	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210708200-210711000	Enhancers	HSMMtube	muscle
4	chr1:210708400-210710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:210708600-210710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:210708600-210710400	Enhancers	Fetal Brain Male	brain
7	chr1:210708800-210710400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:210708800-210710400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:210708800-210710600	Enhancers	Fetal Heart	heart
10	chr1:210709000-210710400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:210709200-210710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:210709200-210710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:210709200-210710800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:210709400-210715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:210709600-210710800	Enhancers	Brain Hippocampus Middle	brain
16	chr1:210709800-210710400	Enhancers	A549	lung
17	chr1:210709800-210710800	Weak transcription	Brain Germinal Matrix	brain
18	chr1:210709800-210711000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:210709800-210715200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:210710000-210715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:210710000-210715000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:210710000-210715000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:210710000-210715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:210710000-210715200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:210710000-210715400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:210710200-210715200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:210710200-210715200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:210710200-210715200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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