Variant report

Variant	rs73592947
Chromosome Location	chr8:55067206-55067207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr8:55067120-55067238	K562	blood:	n/a	n/a
2	RCOR1	chr8:55065430-55067290	K562	blood:	n/a	n/a
3	MAFK	chr8:55065541-55067216	K562	blood:	n/a	chr8:55066084-55066099
4	RCOR1	chr8:55066793-55067208	K562	blood:	n/a	n/a
5	ZNF143	chr8:55066900-55067223	K562	blood:	n/a	n/a
6	ZNF384	chr8:55066710-55067377	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:55060572..55062872-chr8:55065530..55067703,2	K562	blood:
2	chr8:55054461..55056244-chr8:55065742..55067403,2	K562	blood:
3	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
4	chr8:55051193..55054148-chr8:55065664..55067293,2	K562	blood:
5	chr8:55065979..55068136-chr8:55068937..55070902,2	K562	blood:

No data

Variant related genes	Relation type
RNU6ATAC32P	TF binding region
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10081501	1.00[AMR][1000 genomes]
rs10087770	1.00[AMR][1000 genomes]
rs10095087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100207	1.00[AMR][1000 genomes]
rs28524857	1.00[AMR][1000 genomes]
rs28579846	1.00[AMR][1000 genomes]
rs57873951	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732345	0.85[AFR][1000 genomes]
rs73592950	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55061600-55078000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:55061600-55078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:55062200-55078400	Weak transcription	Right Atrium	heart
4	chr8:55062400-55068400	Enhancers	HUVEC	blood vessel
5	chr8:55063400-55078400	Weak transcription	Ovary	ovary
6	chr8:55063800-55069400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:55064000-55067800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:55064000-55078000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:55064200-55070600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:55064600-55078400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:55064800-55078000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:55066400-55071200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:55066800-55068200	Enhancers	Lung	lung
14	chr8:55066800-55068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:55067000-55067800	Enhancers	K562	blood
16	chr8:55067000-55068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:55067000-55071200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:55067200-55071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:55067200-55071000	Weak transcription	Placenta	Placenta
20	chr8:55067200-55071200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:55067200-55071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:55067200-55071200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:55067200-55071400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:55067200-55078000	Weak transcription	NHLF	lung
25	chr8:55067200-55078200	Weak transcription	Primary B cells from cord blood	blood
26	chr8:55067200-55078200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:55067200-55078200	Weak transcription	HSMM	muscle
28	chr8:55067200-55078200	Weak transcription	NHDF-Ad	bronchial
29	chr8:55067200-55078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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