Variant report

Variant	rs1228656
Chromosome Location	chr2:168365194-168365195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1036130	0.84[AFR][1000 genomes]
rs10497325	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1113988	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904438	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227108	0.82[AFR][1000 genomes]
rs1227109	0.85[AFR][1000 genomes]
rs1227110	0.84[AFR][1000 genomes]
rs1227136	0.91[EUR][1000 genomes]
rs1228654	0.81[AFR][1000 genomes]
rs1236835	0.84[AFR][1000 genomes]
rs1237507	0.91[AFR][1000 genomes]
rs1238297	0.94[AFR][1000 genomes]
rs1431910	0.91[AFR][1000 genomes]
rs16841779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853635	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853638	0.84[AFR][1000 genomes]
rs16853656	0.91[AFR][1000 genomes]
rs16853707	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853726	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853738	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853749	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730672	0.94[AFR][1000 genomes]
rs1730724	0.93[AFR][1000 genomes]
rs17564763	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565731	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622284	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622965	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623447	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195790	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58329901	0.88[AFR][1000 genomes]
rs61010982	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61353392	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024049	0.97[AFR][1000 genomes]
rs73024058	0.94[AFR][1000 genomes]
rs73024082	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024087	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024093	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026007	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026011	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026021	0.90[EUR][1000 genomes]
rs7557157	0.88[AFR][1000 genomes]
rs7572056	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979974	0.93[AFR][1000 genomes]
rs991159	0.84[AFR][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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:168356600-168365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168357000-168365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:168358400-168365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:168361200-168365400	Weak transcription	HUVEC	blood vessel
7	chr2:168364400-168367000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:168364600-168365400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:168364600-168365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:168364600-168365600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:168365000-168366200	Weak transcription	Fetal Lung	lung
12	chr2:168365000-168366800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:168365000-168367200	Enhancers	Muscle Satellite Cultured Cells	--

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