Variant report

Variant	rs4242344
Chromosome Location	chr8:124679822-124679823
allele	C/T
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	chr8:124678619..124681390-chr8:124681929..124684973,3	K562	blood:

Variant related genes	Relation type
ENSG00000156804	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	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13340553	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28377815	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34123325	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34218333	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3891281	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242343	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449770	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4618676	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871404	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871406	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871407	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55714811	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56123029	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982035	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461069	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
2	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:124671400-124681000	Weak transcription	HSMM	muscle
5	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:124674400-124680200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:124675000-124680400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:124675000-124680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:124675200-124680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:124675200-124680600	Weak transcription	Osteobl	bone
12	chr8:124675200-124680800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
14	chr8:124676800-124680000	Enhancers	Psoas Muscle	Psoas
15	chr8:124676800-124681800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:124677000-124681600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:124678600-124683600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:124678800-124680800	Weak transcription	Right Atrium	heart
19	chr8:124678800-124681200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:124678800-124681600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:124679000-124681000	Weak transcription	Aorta	Aorta
22	chr8:124679000-124681400	Weak transcription	Left Ventricle	heart
23	chr8:124679000-124683600	Weak transcription	Right Ventricle	heart
24	chr8:124679600-124680600	Weak transcription	Stomach Smooth Muscle	stomach

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