Variant report

Variant	rs72712452
Chromosome Location	chr4:142653448-142653449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10003233	0.96[ASN][1000 genomes]
rs10033884	0.96[ASN][1000 genomes]
rs10519610	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10833	0.98[ASN][1000 genomes]
rs12498901	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504148	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607595	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007561	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17364630	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131413	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131414	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131415	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113914	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956405	0.91[ASN][1000 genomes]
rs55706905	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082300	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56129444	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305248	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56332929	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56761520	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6827248	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842735	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850492	0.98[ASN][1000 genomes]
rs72712404	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712412	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712413	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712415	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712416	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712417	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712418	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712421	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712423	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712425	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712427	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712428	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712434	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712436	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712438	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712443	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712444	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712445	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712448	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349640	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440292	0.98[ASN][1000 genomes]
rs7668411	0.96[ASN][1000 genomes]
rs7671458	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688025	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688999	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694632	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3448093	chr4:142612197-142704695	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142608800-142655000	Weak transcription	Gastric	stomach
2	chr4:142629400-142654600	Weak transcription	Esophagus	oesophagus
3	chr4:142629400-142655000	Weak transcription	Spleen	Spleen
4	chr4:142629600-142657600	Weak transcription	Right Ventricle	heart
5	chr4:142634600-142653600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:142634800-142656200	Weak transcription	Pancreas	Pancrea
7	chr4:142635800-142653600	Weak transcription	HSMMtube	muscle
8	chr4:142639600-142655000	Weak transcription	Primary B cells from cord blood	blood
9	chr4:142639600-142657400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:142641400-142655000	Weak transcription	Lung	lung
11	chr4:142641800-142654200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:142644800-142654400	Weak transcription	GM12878-XiMat	blood
13	chr4:142644800-142655800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:142646600-142655800	Weak transcription	Small Intestine	intestine
15	chr4:142649800-142655400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:142651000-142653800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr4:142651000-142654600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:142651000-142654600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:142651000-142654800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:142651200-142654000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:142651400-142654200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:142651400-142655000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:142651600-142653600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:142651600-142655600	Weak transcription	A549	lung
25	chr4:142651800-142653600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:142651800-142654800	Strong transcription	Aorta	Aorta
27	chr4:142652000-142653600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:142652000-142654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:142652000-142656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:142652200-142656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:142652400-142654000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:142652400-142656000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:142652400-142656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:142652400-142656400	Weak transcription	HSMM	muscle
35	chr4:142652800-142655600	Weak transcription	Adipose Nuclei	Adipose
36	chr4:142652800-142656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:142653000-142656000	Weak transcription	Liver	Liver
38	chr4:142653000-142659200	Weak transcription	Left Ventricle	heart
39	chr4:142653200-142653800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr4:142653400-142653600	Enhancers	Psoas Muscle	Psoas

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