Variant report

Variant	rs60649654
Chromosome Location	chr2:20586557-20586558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16987565	0.91[AMR][1000 genomes]
rs16987589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56008840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56107812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214401	0.91[AMR][1000 genomes]
rs73216226	0.91[AMR][1000 genomes]
rs73218107	0.91[AMR][1000 genomes]
rs73218133	1.00[AMR][1000 genomes]
rs73218134	1.00[AMR][1000 genomes]
rs73218141	1.00[AMR][1000 genomes]
rs73218147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218153	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73916807	0.88[AFR][1000 genomes];0.91[AMR][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581200-20586600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr2:20581600-20587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
4	chr2:20583400-20587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:20583600-20587200	Weak transcription	NHEK	skin
6	chr2:20585000-20586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:20585400-20586600	Enhancers	Colonic Mucosa	Colon
8	chr2:20585400-20586600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:20585400-20587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20585600-20586600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:20585800-20587200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:20585800-20593800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:20586000-20586800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20586200-20586600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:20586200-20586600	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:20586200-20586800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:20586200-20586800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:20586200-20586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20586200-20586800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20586400-20586800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:20586400-20586800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:20586400-20587400	Enhancers	Osteobl	bone

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