Variant report

Variant	rs62518563
Chromosome Location	chr8:124646466-124646467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124645881..124648835-chr8:124656930..124658613,2	K562	blood:
2	chr8:124644904..124649137-chr8:124652807..124658443,6	MCF-7	breast:
3	chr8:124644884..124646773-chr8:124663216..124665347,2	MCF-7	breast:
4	chr8:124608092..124610186-chr8:124645249..124647691,2	MCF-7	breast:
5	chr8:124643571..124646557-chr8:124651939..124654675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs140613	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520871	1.00[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124640200-124647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124640800-124646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
4	chr8:124642400-124646800	Enhancers	NH-A	brain
5	chr8:124643200-124651800	Weak transcription	Psoas Muscle	Psoas
6	chr8:124643800-124650800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:124645000-124647200	Weak transcription	K562	blood
8	chr8:124645000-124647600	Weak transcription	Left Ventricle	heart
9	chr8:124645000-124651800	Weak transcription	Fetal Heart	heart
10	chr8:124645600-124647400	Weak transcription	Right Atrium	heart
11	chr8:124645600-124649200	Weak transcription	Hela-S3	cervix
12	chr8:124645800-124649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:124646000-124647200	Weak transcription	NHDF-Ad	bronchial
14	chr8:124646000-124651800	Weak transcription	Aorta	Aorta
15	chr8:124646000-124655800	Weak transcription	Osteobl	bone
16	chr8:124646200-124647400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:124646400-124647400	Weak transcription	HMEC	breast
18	chr8:124646400-124649200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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