Variant report

Variant	rs10493468
Chromosome Location	chr1:70506922-70506923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70500723..70504696-chr1:70505322..70508157,4	K562	blood:
2	chr1:70504669..70508313-chr1:70509431..70511799,3	K562	blood:
3	chr1:70506553..70508330-chr1:70513862..70516733,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs583035	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs587562	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs616511	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621996	0.80[EUR][1000 genomes]
rs622549	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs633346	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs650740	0.84[CEU][hapmap]
rs659181	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs661765	0.96[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs663251	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs674706	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs687531	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70464800-70509000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:70479400-70515600	Weak transcription	Fetal Brain Male	brain
3	chr1:70501000-70509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:70504000-70509800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:70504200-70507400	Weak transcription	Fetal Heart	heart
6	chr1:70504200-70508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:70504200-70509400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:70504200-70509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:70504400-70509200	Weak transcription	HMEC	breast
10	chr1:70504400-70509400	Weak transcription	Osteobl	bone
11	chr1:70504400-70509600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:70504400-70509600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:70504600-70507800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:70504600-70508200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:70505000-70507200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:70505200-70509600	Weak transcription	Fetal Stomach	stomach
18	chr1:70505400-70512800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:70505400-70536200	Weak transcription	Fetal Brain Female	brain
20	chr1:70506000-70536400	Weak transcription	Brain Germinal Matrix	brain
21	chr1:70506400-70507400	Enhancers	K562	blood
22	chr1:70506400-70508400	Enhancers	Primary monocytes fromperipheralblood	blood

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