Variant report

Variant	rs10493467
Chromosome Location	chr1:70500691-70500692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70499914..70500706-chr1:70608453..70608981,2	MCF-7	breast:
2	chr1:70499352..70501847-chr1:70502427..70503999,2	K562	blood:
3	chr1:70500217..70500734-chr1:70975931..70976504,2	K562	blood:
4	chr1:70495317..70498678-chr1:70499423..70502142,3	K562	blood:
5	chr1:70497178..70499324-chr1:70500642..70503385,2	K562	blood:

Variant related genes	Relation type
ENSG00000237919	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10493464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10493465	1.00[CHB][hapmap]
rs10493466	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11209585	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025814	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12039381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12040020	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12040667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041478	1.00[CHB][hapmap]
rs12043672	1.00[CHB][hapmap]
rs12044979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097485	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17097487	1.00[CHB][hapmap]
rs17097511	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131132	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131135	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131142	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2291777	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs4650016	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60482157	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61243666	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs721242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs725795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7354891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70464800-70509000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:70478000-70503800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:70479400-70515600	Weak transcription	Fetal Brain Male	brain
4	chr1:70479800-70503800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:70485200-70503800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:70485600-70503800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:70488000-70503200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:70488000-70503800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:70489400-70501400	Weak transcription	Fetal Brain Female	brain
10	chr1:70499800-70500800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:70500000-70501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:70500200-70500800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:70500200-70506200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:70500600-70501000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:70500600-70503800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:70500600-70503800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:70500600-70503800	Weak transcription	Pancreas	Pancrea

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