Variant report

Variant	rs12674767
Chromosome Location	chr8:103607940-103607941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103606714..103608840-chr8:103819569..103821796,2	K562	blood:
2	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
3	chr8:103605191..103610330-chr8:103875286..103877974,4	MCF-7	breast:
4	chr8:103602047..103604905-chr8:103607309..103609943,2	K562	blood:
5	chr8:103596770..103599331-chr8:103606707..103609510,2	K562	blood:
6	chr8:103606352..103608915-chr8:103612580..103614660,2	K562	blood:
7	chr8:103422782..103425169-chr8:103603873..103609183,4	MCF-7	breast:
8	chr8:103606751..103617128-chr8:103816392..103825354,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10955288	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546601	0.81[CHB][hapmap];1.00[AFR][1000 genomes]
rs12547574	0.83[AFR][1000 genomes]
rs12547834	0.85[CEU][hapmap]
rs12674646	0.83[AFR][1000 genomes]
rs12680598	0.83[AFR][1000 genomes]
rs1318752	0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16869664	0.85[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16869676	0.85[CHB][hapmap]
rs2053128	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2388192	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2436924	0.93[ASN][1000 genomes]
rs2511718	0.85[CHB][hapmap]
rs35509459	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55750587	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55814340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56398883	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60320584	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72683098	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72683100	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72683101	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72683102	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72685103	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72685104	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72685109	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72685110	0.83[AFR][1000 genomes]
rs72685118	0.83[AFR][1000 genomes]
rs72685123	0.83[AFR][1000 genomes]
rs72685128	0.83[AFR][1000 genomes]
rs73276720	1.00[AFR][1000 genomes]
rs9642791	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9642979	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs965660	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs980112	0.83[AFR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103603200-103608400	Weak transcription	Left Ventricle	heart
5	chr8:103603400-103612200	Weak transcription	Right Ventricle	heart
6	chr8:103603800-103613000	Weak transcription	Right Atrium	heart
7	chr8:103605200-103609800	Weak transcription	K562	blood
8	chr8:103605200-103610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:103605200-103612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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