Variant report

Variant	rs57006782
Chromosome Location	chr2:86511365-86511366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86506964..86508906-chr2:86509472..86512092,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10451631	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451665	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451666	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451668	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863062	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28527367	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35807694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35943273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821015	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56657747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742104	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57137376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57279476	0.85[EUR][1000 genomes]
rs57412282	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57743711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57786125	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57924251	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58029983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58141172	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58210919	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58287226	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58728311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58996019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59149450	0.88[ASN][1000 genomes]
rs59300790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59409236	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59523869	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59567456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59697218	0.82[ASN][1000 genomes]
rs60032974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60067772	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60237707	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60295664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60345058	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60427833	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60474859	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60484746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60791163	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60840060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61392096	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61636758	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61669204	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61700819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938375	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72940115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753918	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593666	1.00[EUR][1000 genomes];0.94[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86506200-86512400	Enhancers	Left Ventricle	heart
4	chr2:86506600-86511800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:86508400-86513000	Bivalent Enhancer	Fetal Stomach	stomach
9	chr2:86508400-86517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
11	chr2:86509000-86511600	Weak transcription	Fetal Brain Female	brain
12	chr2:86509600-86512400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:86509600-86514000	Enhancers	Right Ventricle	heart
14	chr2:86509800-86511600	Enhancers	Fetal Heart	heart
15	chr2:86509800-86511800	Enhancers	Fetal Intestine Large	intestine
16	chr2:86510000-86512000	Enhancers	Placenta	Placenta
17	chr2:86510000-86512200	Enhancers	Psoas Muscle	Psoas
18	chr2:86510200-86512400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:86510400-86511800	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:86510400-86512200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:86510400-86512200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:86510400-86513000	Enhancers	Fetal Lung	lung
23	chr2:86510400-86513400	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:86510400-86514400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:86510600-86512200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:86510600-86512600	Enhancers	Right Atrium	heart
27	chr2:86510600-86514000	Enhancers	Pancreas	Pancrea
28	chr2:86510800-86511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:86510800-86511400	Enhancers	Colonic Mucosa	Colon
30	chr2:86510800-86511600	Weak transcription	Brain Germinal Matrix	brain
31	chr2:86510800-86511600	Bivalent Enhancer	HepG2	liver
32	chr2:86510800-86511800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:86510800-86512000	Genic enhancers	Fetal Intestine Small	intestine
34	chr2:86510800-86512000	Enhancers	Gastric	stomach
35	chr2:86510800-86512200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:86511000-86511400	Enhancers	Fetal Thymus	thymus
37	chr2:86511000-86511800	Enhancers	Lung	lung
38	chr2:86511000-86512200	Enhancers	Brain Anterior Caudate	brain
39	chr2:86511000-86512200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:86511000-86512600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:86511000-86518000	Weak transcription	Fetal Kidney	kidney
42	chr2:86511200-86512200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:86511200-86513200	Enhancers	HSMMtube	muscle
44	chr2:86511200-86524000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links