Variant report

Variant	rs56123029
Chromosome Location	chr8:124673630-124673631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124668666..124670546-chr8:124672499..124675168,2	MCF-7	breast:
2	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:
3	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11997295	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13340553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28377815	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34123325	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34218333	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3891281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242344	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4449770	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4618676	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870863	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871404	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871406	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55714811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982035	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3324945	chr8:124669371-124673969	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
4	chr8:124670400-124673800	Weak transcription	HSMMtube	muscle
5	chr8:124670400-124678400	Weak transcription	Right Atrium	heart
6	chr8:124670600-124673800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:124670600-124674400	Weak transcription	Placenta	Placenta
8	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:124671200-124673800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:124671200-124674200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:124671200-124675800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:124671400-124674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:124671400-124674200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:124671400-124676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:124671400-124681000	Weak transcription	HSMM	muscle
17	chr8:124671600-124673800	Weak transcription	NHDF-Ad	bronchial
18	chr8:124671600-124673800	Weak transcription	Osteobl	bone
19	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:124673200-124674000	Enhancers	Esophagus	oesophagus
21	chr8:124673200-124674000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:124673400-124677800	Enhancers	HMEC	breast
23	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:124673600-124673800	Enhancers	A549	lung
25	chr8:124673600-124673800	Bivalent/Poised TSS	Hela-S3	cervix
26	chr8:124673600-124674400	Enhancers	Pancreas	Pancrea
27	chr8:124673600-124675000	Enhancers	Aorta	Aorta
28	chr8:124673600-124675200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:124673600-124675200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:124673600-124675200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr8:124673600-124676400	Enhancers	Psoas Muscle	Psoas
32	chr8:124673600-124677000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:124673600-124677000	Enhancers	NHEK	skin
34	chr8:124673600-124677200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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