Variant report

Variant	rs66486916
Chromosome Location	chr2:173200478-173200479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10209443	0.87[EUR][1000 genomes]
rs4496307	0.82[EUR][1000 genomes]
rs55639081	0.93[ASN][1000 genomes]
rs55889669	0.83[EUR][1000 genomes]
rs55998604	0.93[ASN][1000 genomes]
rs56004424	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56011402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019642	0.81[EUR][1000 genomes]
rs56105609	0.83[EUR][1000 genomes]
rs56173730	0.83[EUR][1000 genomes]
rs56207281	0.82[EUR][1000 genomes]
rs57200533	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57540835	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58198619	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59279316	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59465816	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61071477	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61286863	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs67153018	0.87[EUR][1000 genomes]
rs6742648	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs68139840	0.87[EUR][1000 genomes]
rs72884220	0.82[EUR][1000 genomes]
rs72886051	0.81[EUR][1000 genomes]
rs72888108	0.81[EUR][1000 genomes]
rs73018829	0.93[ASN][1000 genomes]
rs7588553	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7591203	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7602327	0.89[AFR][1000 genomes];0.98[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
2	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
3	chr2:173197600-173204000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:173197600-173204400	Weak transcription	Thymus	Thymus
5	chr2:173197800-173204000	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:173198400-173201800	Weak transcription	Small Intestine	intestine
7	chr2:173198400-173204400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:173198600-173204000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:173198600-173204000	Weak transcription	Fetal Thymus	thymus
10	chr2:173198600-173204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:173198600-173204200	Weak transcription	Fetal Lung	lung
12	chr2:173198800-173200800	Enhancers	Pancreas	Pancrea
13	chr2:173198800-173203600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:173198800-173204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:173198800-173204000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:173199000-173203000	Enhancers	Colonic Mucosa	Colon
17	chr2:173199600-173200600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:173199600-173201800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
20	chr2:173199800-173200800	Enhancers	Gastric	stomach
21	chr2:173199800-173203200	Enhancers	Fetal Intestine Large	intestine
22	chr2:173199800-173205000	Enhancers	Fetal Intestine Small	intestine
23	chr2:173200000-173201400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173200000-173204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:173200200-173200600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:173200200-173202000	Weak transcription	Lung	lung
27	chr2:173200400-173201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:173200400-173201600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173200400-173202400	Bivalent Enhancer	HepG2	liver
30	chr2:173200400-173204000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links