Variant report

Variant	rs60876734
Chromosome Location	chr8:130703388-130703389
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:128745097..128750653-chr8:130701645..130707585,8	K562	blood:
2	chr8:130699958..130701746-chr8:130701931..130704723,3	K562	blood:
3	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:
4	chr8:130688486..130691516-chr8:130701686..130704518,3	K562	blood:
5	chr8:130701843..130703503-chr8:130719583..130721644,2	K562	blood:
6	chr8:130692959..130695780-chr8:130701945..130704433,2	K562	blood:
7	chr8:128749024..128750653-chr8:130701645..130703489,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16904165	1.00[EUR][1000 genomes]
rs58121065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60106676	1.00[EUR][1000 genomes]
rs6991626	1.00[EUR][1000 genomes]
rs6991867	1.00[EUR][1000 genomes]
rs7008330	1.00[EUR][1000 genomes]
rs73401526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:130698600-130705200	Weak transcription	Placenta	Placenta
3	chr8:130698800-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130699000-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:130699600-130704400	Weak transcription	HUVEC	blood vessel
6	chr8:130699800-130706400	Flanking Active TSS	K562	blood
7	chr8:130700200-130704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130701600-130705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:130701600-130708400	Weak transcription	Spleen	Spleen
10	chr8:130701800-130707200	Enhancers	Fetal Lung	lung
11	chr8:130702000-130703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:130702000-130705000	Weak transcription	Fetal Heart	heart
13	chr8:130702400-130704400	Enhancers	A549	lung
14	chr8:130702800-130703400	Active TSS	GM12878-XiMat	blood
15	chr8:130702800-130703600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:130702800-130705000	Enhancers	NHEK	skin
17	chr8:130702800-130705200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:130703000-130703600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:130703000-130703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:130703000-130703800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:130703000-130703800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:130703000-130705400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:130703200-130703400	Enhancers	Fetal Intestine Large	intestine
24	chr8:130703200-130703600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:130703200-130703600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:130703200-130703600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:130703200-130703600	Enhancers	Pancreas	Pancrea
28	chr8:130703200-130703800	Enhancers	Fetal Thymus	thymus
29	chr8:130703200-130703800	Enhancers	HMEC	breast

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