Variant report

Variant	rs73265765
Chromosome Location	chr8:87521949-87521950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:87521787-87523273	PBDE	blood:	n/a	chr8:87522222-87522233
2	MAZ	chr8:87521881-87521976	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:61101688..61103603-chr8:87519693..87522551,2	MCF-7	breast:
2	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
3	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
4	chr17:56735220..56736743-chr8:87519263..87521949,2	MCF-7	breast:
5	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
6	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
7	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
8	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
9	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:

No data

Variant related genes	Relation type
CPNE3	TF binding region
RMDN1	TF binding region
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000250569	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10107265	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28451965	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28696357	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41333046	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271015	1.00[EUR][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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87521200-87522000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:87521200-87526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:87521200-87526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87521400-87526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:87521400-87526200	Weak transcription	Fetal Lung	lung
6	chr8:87521400-87526200	Weak transcription	Left Ventricle	heart
7	chr8:87521400-87526200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:87521400-87526200	Weak transcription	Stomach Mucosa	stomach
9	chr8:87521400-87526600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:87521600-87522000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:87521600-87522000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:87521600-87522000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:87521600-87522000	Enhancers	Brain Hippocampus Middle	brain
14	chr8:87521600-87522000	Enhancers	NHDF-Ad	bronchial
15	chr8:87521600-87523400	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:87521600-87523400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:87521600-87523800	Weak transcription	Fetal Thymus	thymus
18	chr8:87521600-87523800	Weak transcription	GM12878-XiMat	blood
19	chr8:87521600-87524200	Weak transcription	Fetal Heart	heart
20	chr8:87521600-87524400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:87521600-87524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:87521600-87524600	Weak transcription	Fetal Intestine Small	intestine
23	chr8:87521600-87524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:87521600-87525200	Enhancers	K562	blood
25	chr8:87521600-87525600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:87521600-87525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:87521600-87525800	Weak transcription	Primary T cells from cord blood	blood
28	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:87521600-87525800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:87521600-87526000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:87521600-87526000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:87521600-87526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:87521600-87526000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:87521600-87526000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:87521600-87526000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:87521600-87526000	Weak transcription	Brain Angular Gyrus	brain
38	chr8:87521600-87526000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:87521600-87526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:87521600-87526000	Weak transcription	Pancreas	Pancrea
41	chr8:87521600-87526000	Weak transcription	Small Intestine	intestine
42	chr8:87521600-87526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:87521600-87526200	Weak transcription	Primary B cells from cord blood	blood
44	chr8:87521600-87526200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:87521600-87526200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:87521600-87526200	Weak transcription	Adipose Nuclei	Adipose
47	chr8:87521600-87526200	Weak transcription	Liver	Liver
48	chr8:87521600-87526200	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:87521600-87526200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:87521600-87526200	Weak transcription	Fetal Brain Female	brain

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