Variant report

Variant	rs7827608
Chromosome Location	chr8:124633741-124633742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124621417..124623503-chr8:124631883..124634146,2	MCF-7	breast:
2	chr8:124630537..124633840-chr8:124641197..124643373,3	MCF-7	breast:
3	chr8:124618781..124620563-chr8:124632222..124635150,2	K562	blood:
4	chr8:124599897..124602444-chr8:124632894..124635486,2	MCF-7	breast:
5	chr8:124595940..124598398-chr8:124632686..124634983,2	MCF-7	breast:
6	chr8:124631690..124636350-chr8:124636820..124639230,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087106	0.95[EUR][1000 genomes]
rs140613	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17255071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17340040	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62518433	0.85[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520871	0.92[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520908	0.92[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520924	0.95[EUR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];0.92[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
3	chr8:124628400-124633800	Enhancers	Osteobl	bone
4	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
5	chr8:124630400-124635600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:124630800-124635400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:124631200-124634200	Enhancers	HMEC	breast
8	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124631600-124634600	Weak transcription	Left Ventricle	heart
10	chr8:124631800-124634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:124632000-124634600	Weak transcription	K562	blood
12	chr8:124632600-124633800	Weak transcription	HSMM	muscle
13	chr8:124632800-124633800	Weak transcription	NHEK	skin
14	chr8:124632800-124634600	Weak transcription	Fetal Intestine Large	intestine
15	chr8:124633000-124634400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:124633000-124634600	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:124633000-124635000	Weak transcription	HSMMtube	muscle
18	chr8:124633200-124635200	Enhancers	Psoas Muscle	Psoas
19	chr8:124633400-124635000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:124633600-124633800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:124633600-124633800	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:124633600-124634200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:124633600-124637400	Enhancers	Fetal Heart	heart

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