Variant report

Variant	rs1227108
Chromosome Location	chr2:168371462-168371463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168342324..168343828-chr2:168369519..168372114,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1025430	1.00[EUR][1000 genomes]
rs1036130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1147152	1.00[EUR][1000 genomes]
rs1147153	1.00[EUR][1000 genomes]
rs1147156	1.00[EUR][1000 genomes]
rs11891312	1.00[EUR][1000 genomes]
rs12104575	0.88[AFR][1000 genomes]
rs1226903	1.00[EUR][1000 genomes]
rs1227109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1227110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1227112	1.00[EUR][1000 genomes]
rs1227118	1.00[EUR][1000 genomes]
rs1227119	1.00[EUR][1000 genomes]
rs1227121	1.00[EUR][1000 genomes]
rs1227124	1.00[EUR][1000 genomes]
rs1227125	1.00[EUR][1000 genomes]
rs1227126	1.00[EUR][1000 genomes]
rs1228654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228655	1.00[EUR][1000 genomes]
rs1228656	0.82[AFR][1000 genomes]
rs1236835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1237507	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1237906	1.00[EUR][1000 genomes]
rs1238297	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1238300	1.00[EUR][1000 genomes]
rs1239011	1.00[EUR][1000 genomes]
rs1239012	1.00[EUR][1000 genomes]
rs13413032	1.00[EUR][1000 genomes]
rs1431905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431910	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1523880	1.00[EUR][1000 genomes]
rs1625491	1.00[EUR][1000 genomes]
rs1653386	1.00[EUR][1000 genomes]
rs1653403	1.00[EUR][1000 genomes]
rs1653406	1.00[EUR][1000 genomes]
rs16853638	1.00[EUR][1000 genomes]
rs16853656	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1730672	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1730685	1.00[EUR][1000 genomes]
rs1730701	1.00[EUR][1000 genomes]
rs1730702	1.00[EUR][1000 genomes]
rs1730709	1.00[EUR][1000 genomes]
rs1730724	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1964366	1.00[EUR][1000 genomes]
rs2436053	1.00[EUR][1000 genomes]
rs2464040	1.00[EUR][1000 genomes]
rs2617377	1.00[EUR][1000 genomes]
rs2617384	1.00[EUR][1000 genomes]
rs28439206	1.00[EUR][1000 genomes]
rs28699542	1.00[EUR][1000 genomes]
rs58329901	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58381721	1.00[EUR][1000 genomes]
rs58529068	1.00[EUR][1000 genomes]
rs60039058	1.00[EUR][1000 genomes]
rs6432999	1.00[EUR][1000 genomes]
rs6712894	1.00[EUR][1000 genomes]
rs6719316	1.00[EUR][1000 genomes]
rs6725468	1.00[EUR][1000 genomes]
rs6729236	1.00[EUR][1000 genomes]
rs6740851	1.00[EUR][1000 genomes]
rs6750622	1.00[EUR][1000 genomes]
rs73022071	1.00[EUR][1000 genomes]
rs73022078	1.00[EUR][1000 genomes]
rs73022085	1.00[EUR][1000 genomes]
rs73022089	1.00[EUR][1000 genomes]
rs73023884	1.00[EUR][1000 genomes]
rs73024003	1.00[EUR][1000 genomes]
rs73024049	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73024058	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73972301	1.00[EUR][1000 genomes]
rs7557157	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7567053	1.00[EUR][1000 genomes]
rs7567252	1.00[EUR][1000 genomes]
rs7606712	1.00[EUR][1000 genomes]
rs979974	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs991159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994428	1.00[EUR][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168366600-168384800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168366800-168374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:168367000-168385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:168371200-168372000	Enhancers	Muscle Satellite Cultured Cells	--

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