Variant report

Variant	rs12075242
Chromosome Location	chr1:221806343-221806344
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	chr1:221804015..221806371-chr1:221811621..221813998,2	K562	blood:
2	chr1:221796853..221799053-chr1:221805880..221808710,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10082031	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10082119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10449312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495171	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118769	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118771	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12058091	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12060691	0.95[AFR][1000 genomes]
rs12063275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079769	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081273	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081326	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082182	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082815	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082874	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12084065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086252	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086291	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088112	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089796	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12092891	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12093053	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095828	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376358	0.88[EUR][1000 genomes]
rs17010395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010463	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1973728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28515661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56971545	1.00[EUR][1000 genomes]
rs57255089	1.00[EUR][1000 genomes]
rs58173559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58482927	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59383649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59680640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59837278	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60152531	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60217573	1.00[EUR][1000 genomes]
rs61079406	1.00[EUR][1000 genomes]
rs61221236	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73117552	0.88[EUR][1000 genomes]
rs74145360	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145363	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145364	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145365	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145366	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145367	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145373	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145375	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145376	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221804600-221806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221804600-221806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221804600-221806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:221804800-221807600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:221804800-221807600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:221806000-221807000	Weak transcription	K562	blood
7	chr1:221806000-221811200	Weak transcription	Fetal Heart	heart
8	chr1:221806200-221813600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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