Variant report

Variant	rs72940160
Chromosome Location	chr2:86520669-86520670
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	chr2:86520039..86522438-chr2:86848868..86850402,2	K562	blood:
2	chr2:86519380..86521878-chr2:86524185..86527077,2	K562	blood:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction

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

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

rs_ID	r²[population]
rs10451631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863062	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28527367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35807694	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35943273	0.85[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57006782	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57137376	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57786125	1.00[AFR][1000 genomes];1.00[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	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59149450	0.88[ASN][1000 genomes]
rs59300790	0.85[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59567456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59697218	0.82[ASN][1000 genomes]
rs60032974	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60345058	1.00[AFR][1000 genomes];1.00[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	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61392096	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61636758	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61669204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61700819	1.00[EUR][1000 genomes]
rs6716825	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728494	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748079	0.85[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940124	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940126	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940131	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72940149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940152	1.00[AFR][1000 genomes];1.00[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	0.93[AMR][1000 genomes];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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86511200-86524000	Weak transcription	Aorta	Aorta
2	chr2:86512000-86521800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:86512400-86524000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:86514000-86529200	Weak transcription	Pancreas	Pancrea
5	chr2:86517400-86521200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:86517400-86521200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:86517600-86522000	Enhancers	Stomach Smooth Muscle	stomach
8	chr2:86517800-86524000	Weak transcription	Right Atrium	heart
9	chr2:86518000-86521200	Enhancers	Brain Germinal Matrix	brain
10	chr2:86518400-86521200	Enhancers	Fetal Brain Male	brain
11	chr2:86518400-86527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:86518600-86522000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:86519600-86521200	Enhancers	Fetal Brain Female	brain
14	chr2:86519800-86521400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:86520000-86521400	Enhancers	Brain Angular Gyrus	brain
16	chr2:86520000-86521400	Enhancers	Fetal Heart	heart
17	chr2:86520200-86521200	Enhancers	Brain Anterior Caudate	brain
18	chr2:86520200-86521200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:86520200-86521200	Enhancers	Colon Smooth Muscle	Colon
20	chr2:86520200-86521200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:86520200-86521400	Enhancers	Brain Substantia Nigra	brain
22	chr2:86520200-86522000	Weak transcription	Small Intestine	intestine
23	chr2:86520200-86522600	Enhancers	Brain Hippocampus Middle	brain
24	chr2:86520400-86521000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:86520400-86521000	Enhancers	Stomach Mucosa	stomach
26	chr2:86520400-86521000	Enhancers	HSMMtube	muscle
27	chr2:86520400-86524000	Weak transcription	Right Ventricle	heart
28	chr2:86520600-86521000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:86520600-86521000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:86520600-86521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:86520600-86522000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:86520600-86523400	Enhancers	Fetal Intestine Large	intestine
33	chr2:86520600-86524000	Weak transcription	Left Ventricle	heart
34	chr2:86520600-86524000	Weak transcription	Psoas Muscle	Psoas
35	chr2:86520600-86524600	Weak transcription	Fetal Muscle Leg	muscle

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