Variant report

Variant	rs34123325
Chromosome Location	chr8:124678531-124678532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124552549..124555263-chr8:124677542..124680489,3	MCF-7	breast:
2	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
3	chr8:124664356..124666128-chr8:124675755..124678627,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11997295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13340553	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28377815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34218333	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3891281	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4242343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4242344	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4449770	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618676	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4870863	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871404	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871406	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871407	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55714811	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56123029	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6982035	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461069	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
3	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:124671400-124681000	Weak transcription	HSMM	muscle
6	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:124674400-124680200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:124675000-124680400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:124675000-124680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:124675200-124680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124675200-124680600	Weak transcription	Osteobl	bone
13	chr8:124675200-124680800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
15	chr8:124676800-124680000	Enhancers	Psoas Muscle	Psoas
16	chr8:124676800-124681800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:124677000-124681600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:124677600-124679000	Enhancers	Aorta	Aorta
19	chr8:124678200-124678800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:124678200-124678800	Enhancers	HMEC	breast
21	chr8:124678400-124678600	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:124678400-124678600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr8:124678400-124678800	Enhancers	Right Atrium	heart
24	chr8:124678400-124679000	Enhancers	Left Ventricle	heart
25	chr8:124678400-124679000	Enhancers	Right Ventricle	heart

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