Variant report

Variant	rs17338860
Chromosome Location	chr8:124589434-124589435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124575271..124580118-chr8:124587417..124591995,7	MCF-7	breast:
2	chr8:124579221..124581055-chr8:124587757..124590725,2	K562	blood:

Variant related genes	Relation type
ENSG00000254113	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes]
rs140613	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17254069	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17254421	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.83[AMR][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]
rs62521292	0.86[EUR][1000 genomes]
rs62523171	1.00[AFR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7004159	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124585200-124590000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:124587000-124590000	Enhancers	Fetal Intestine Small	intestine
4	chr8:124587400-124592000	Weak transcription	HSMM	muscle
5	chr8:124587400-124592200	Weak transcription	Placenta	Placenta
6	chr8:124587800-124590400	Weak transcription	HSMMtube	muscle
7	chr8:124587800-124591600	Weak transcription	Fetal Heart	heart
8	chr8:124588000-124591600	Weak transcription	Psoas Muscle	Psoas
9	chr8:124588400-124590000	Enhancers	Adipose Nuclei	Adipose
10	chr8:124588400-124590600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:124588400-124591000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:124588400-124591600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:124588400-124592800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:124588600-124589600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:124588800-124590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:124588800-124592200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:124589400-124589800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:124589400-124590200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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