Variant report

Variant	rs1245053
Chromosome Location	chr1:70054060-70054061
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	chr1:70051962..70054521-chr1:70082361..70084843,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1065629	1.00[JPT][hapmap]
rs1145922	1.00[JPT][hapmap]
rs1145924	1.00[JPT][hapmap]
rs1245039	1.00[JPT][hapmap]
rs1245040	1.00[JPT][hapmap]
rs1245043	1.00[JPT][hapmap]
rs1245046	1.00[JPT][hapmap]
rs1245047	1.00[JPT][hapmap]
rs1245048	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245049	1.00[JPT][hapmap]
rs1245054	1.00[JPT][hapmap]
rs1245058	1.00[JPT][hapmap]
rs1245063	1.00[JPT][hapmap]
rs1245070	1.00[JPT][hapmap]
rs1245072	1.00[JPT][hapmap]
rs1264407	1.00[JPT][hapmap]
rs1264408	1.00[JPT][hapmap]
rs1264409	1.00[JPT][hapmap]
rs1270432	1.00[JPT][hapmap]
rs1271928	1.00[JPT][hapmap]
rs1341778	1.00[JPT][hapmap]
rs1341781	1.00[JPT][hapmap]
rs1361613	1.00[JPT][hapmap]
rs1623673	1.00[JPT][hapmap]
rs1631834	1.00[JPT][hapmap]
rs17324599	1.00[JPT][hapmap]
rs17396516	1.00[JPT][hapmap]
rs1749459	1.00[JPT][hapmap]
rs1749473	1.00[JPT][hapmap]
rs1749484	1.00[JPT][hapmap]
rs1749492	1.00[JPT][hapmap]
rs1749494	1.00[JPT][hapmap]
rs1749496	1.00[JPT][hapmap]
rs1749497	1.00[JPT][hapmap]
rs1749499	1.00[JPT][hapmap]
rs1749504	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749505	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749507	1.00[JPT][hapmap]
rs1749513	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749515	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749517	1.00[JPT][hapmap]
rs1773309	1.00[JPT][hapmap]
rs1773312	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773321	1.00[JPT][hapmap]
rs1773323	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773325	1.00[JPT][hapmap]
rs1773327	1.00[JPT][hapmap]
rs1773332	1.00[JPT][hapmap]
rs1773333	1.00[JPT][hapmap]
rs1773335	1.00[JPT][hapmap]
rs1773336	1.00[JPT][hapmap]
rs1773337	1.00[JPT][hapmap]
rs1773339	1.00[JPT][hapmap]
rs1773340	1.00[JPT][hapmap]
rs1773344	1.00[JPT][hapmap]
rs1773346	1.00[JPT][hapmap]
rs1773348	1.00[JPT][hapmap]
rs1773350	1.00[JPT][hapmap]
rs2094039	0.95[ASN][1000 genomes]
rs2147785	1.00[JPT][hapmap]
rs227102	1.00[JPT][hapmap]
rs227104	1.00[JPT][hapmap]
rs227105	1.00[JPT][hapmap]
rs227107	0.87[ASN][1000 genomes]
rs227108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs227114	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2764530	1.00[JPT][hapmap]
rs2764532	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70050600-70054200	Weak transcription	Fetal Stomach	stomach
2	chr1:70051600-70055000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:70051600-70061800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:70052200-70054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:70052200-70054600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:70053200-70054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:70053200-70061200	Weak transcription	Fetal Brain Female	brain
8	chr1:70053400-70055000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:70053600-70054600	Weak transcription	Right Atrium	heart
10	chr1:70053800-70054200	Weak transcription	Fetal Brain Male	brain

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