Variant report

Variant	rs28452332
Chromosome Location	chr8:55012687-55012688
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
2	chr8:55010890..55013599-chr8:55056433..55059069,2	MCF-7	breast:
3	chr8:54934501..54937318-chr8:55011753..55013857,2	K562	blood:
4	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
5	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
6	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
7	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
8	chr8:55011657..55013589-chr8:55059186..55062088,2	K562	blood:
9	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251835	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10081501	0.84[MKK][hapmap]
rs10100207	0.84[MKK][hapmap]
rs10101967	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	1.00[ASW][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11549448	0.82[AFR][1000 genomes]
rs16919753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620338	1.00[AMR][1000 genomes]
rs28698373	1.00[AMR][1000 genomes]
rs28723633	0.88[AFR][1000 genomes]
rs28813536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	1.00[AMR][1000 genomes]
rs7012717	1.00[MEX][hapmap]
rs73589289	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	1.00[AMR][1000 genomes]
rs73590837	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
2	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
5	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
6	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
7	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
13	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:55000200-55013400	Weak transcription	Ovary	ovary
16	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
17	chr8:55000400-55012800	Weak transcription	NHLF	lung
18	chr8:55002400-55012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:55002800-55012800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:55002800-55012800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:55002800-55013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:55003600-55012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:55003800-55012800	Weak transcription	Fetal Brain Female	brain
24	chr8:55003800-55012800	Weak transcription	Thymus	Thymus
25	chr8:55004800-55013200	Weak transcription	Fetal Stomach	stomach
26	chr8:55005600-55012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:55005800-55013400	Weak transcription	Gastric	stomach
28	chr8:55006200-55013400	Weak transcription	Left Ventricle	heart
29	chr8:55007000-55012800	Weak transcription	Right Atrium	heart
30	chr8:55007000-55013000	Weak transcription	Right Ventricle	heart
31	chr8:55007200-55012800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:55007200-55013200	Weak transcription	Aorta	Aorta
33	chr8:55007200-55013800	Weak transcription	Spleen	Spleen
34	chr8:55007400-55012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:55007400-55012800	Weak transcription	Brain Germinal Matrix	brain
36	chr8:55007400-55012800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:55007400-55013000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:55007800-55013000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:55008400-55012800	Weak transcription	Psoas Muscle	Psoas
40	chr8:55008600-55012800	Weak transcription	Fetal Intestine Large	intestine
41	chr8:55008800-55012800	Weak transcription	Fetal Heart	heart
42	chr8:55008800-55013000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:55009000-55012800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:55009600-55012800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:55010000-55012800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:55010400-55012800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:55010400-55012800	Weak transcription	Adipose Nuclei	Adipose
48	chr8:55010400-55013200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:55010600-55012800	Weak transcription	Liver	Liver
50	chr8:55010600-55013000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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