Variant report

Variant	rs586043
Chromosome Location	chr3:138831498-138831499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138831386..138833720-chr3:139046881..139049087,2	K562	blood:
2	chr3:138830004..138832870-chr3:139047929..139048811,16	MCF-7	breast:
3	chr3:138830340..138831523-chr3:139047812..139048878,10	K562	blood:
4	chr3:138831442..138831973-chr3:138920924..138921445,2	MCF-7	breast:
5	chr3:138830341..138831717-chr3:139047849..139048818,6	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10513056	1.00[CEU][hapmap]
rs1081429	0.87[ASN][1000 genomes]
rs1092455	0.90[ASN][1000 genomes]
rs10935298	0.89[ASN][1000 genomes]
rs10935299	0.87[JPT][hapmap]
rs12493424	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12632179	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12636735	0.90[EUR][1000 genomes]
rs1533134	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17559081	1.00[CEU][hapmap]
rs1849107	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2202665	0.90[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs57741262	0.87[EUR][1000 genomes]
rs581530	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59158249	0.90[EUR][1000 genomes]
rs59753488	0.90[EUR][1000 genomes]
rs59774400	0.90[EUR][1000 genomes]
rs599157	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs599415	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60709982	0.90[EUR][1000 genomes]
rs60944880	0.87[EUR][1000 genomes]
rs61151687	0.96[ASN][1000 genomes]
rs61484319	0.90[EUR][1000 genomes]
rs629414	0.84[CHB][hapmap]
rs633876	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs647078	0.89[ASN][1000 genomes]
rs647093	0.89[ASN][1000 genomes]
rs649829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs663729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs676102	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804898	0.91[EUR][1000 genomes]
rs68129305	0.85[ASN][1000 genomes]
rs72630200	0.97[ASN][1000 genomes]
rs72978912	0.90[EUR][1000 genomes]
rs7636403	0.91[EUR][1000 genomes]
rs770978	0.90[ASN][1000 genomes]
rs940190	0.80[CHB][hapmap]

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	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138830800-138833000	Enhancers	Brain Hippocampus Middle	brain
3	chr3:138831000-138836000	Weak transcription	HSMM	muscle
4	chr3:138831200-138832200	Weak transcription	Brain Anterior Caudate	brain
5	chr3:138831200-138832200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:138831200-138835400	Weak transcription	NHDF-Ad	bronchial
7	chr3:138831200-138835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:138831200-138836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:138831200-138836200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:138831200-138837600	Weak transcription	Ovary	ovary
11	chr3:138831200-138838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:138831400-138831800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:138831400-138831800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:138831400-138831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:138831400-138831800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:138831400-138831800	Weak transcription	K562	blood

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