Variant report

Variant	rs72914141
Chromosome Location	chr2:190234811-190234812
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10174225	0.83[ASN][1000 genomes]
rs10177513	0.83[ASN][1000 genomes]
rs10497699	0.90[ASN][1000 genomes]
rs10497701	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10931402	0.87[ASN][1000 genomes]
rs10931406	0.87[ASN][1000 genomes]
rs10931410	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11675295	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11676812	0.82[ASN][1000 genomes]
rs11677073	1.00[ASN][1000 genomes]
rs11678388	0.90[ASN][1000 genomes]
rs11681937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684417	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684869	0.87[ASN][1000 genomes]
rs11687908	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11693810	1.00[ASN][1000 genomes]
rs12472232	0.93[ASN][1000 genomes]
rs13389708	0.81[EUR][1000 genomes]
rs1371470	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1402369	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1515873	0.82[ASN][1000 genomes]
rs1515875	0.90[ASN][1000 genomes]
rs1519185	1.00[ASN][1000 genomes]
rs1520862	1.00[ASN][1000 genomes]
rs17198773	0.87[ASN][1000 genomes]
rs17198787	0.85[ASN][1000 genomes]
rs17198815	0.87[ASN][1000 genomes]
rs17198829	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17198857	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17198892	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17270952	0.85[ASN][1000 genomes]
rs17270973	0.90[ASN][1000 genomes]
rs17270987	0.85[ASN][1000 genomes]
rs17271008	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271036	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17271043	0.90[EUR][1000 genomes]
rs17271057	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1996576	1.00[ASN][1000 genomes]
rs2289225	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2304701	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2680629	0.83[ASN][1000 genomes]
rs2683013	1.00[ASN][1000 genomes]
rs2683014	1.00[ASN][1000 genomes]
rs2683015	0.83[ASN][1000 genomes]
rs2683016	0.83[ASN][1000 genomes]
rs28413975	0.93[ASN][1000 genomes]
rs35598715	0.87[ASN][1000 genomes]
rs55822942	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55851872	0.85[ASN][1000 genomes]
rs56252219	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56381644	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58584769	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58926658	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59031473	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61528955	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182060	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182061	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182067	0.83[ASN][1000 genomes]
rs62182068	1.00[ASN][1000 genomes]
rs62182069	1.00[ASN][1000 genomes]
rs62182421	0.87[ASN][1000 genomes]
rs62182457	0.85[ASN][1000 genomes]
rs62182458	0.82[ASN][1000 genomes]
rs62183794	0.87[ASN][1000 genomes]
rs62183841	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183844	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183845	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183846	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183847	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183848	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184647	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62184648	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62184649	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62184652	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62184653	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62187072	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62187074	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62187075	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62187077	0.83[EUR][1000 genomes]
rs62187078	0.83[EUR][1000 genomes]
rs62187082	0.88[EUR][1000 genomes]
rs62187106	0.85[EUR][1000 genomes]
rs6721290	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6747132	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908382	0.93[ASN][1000 genomes]
rs72910347	0.85[ASN][1000 genomes]
rs72912280	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72912286	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914135	0.94[ASN][1000 genomes]
rs72914144	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72914175	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7423067	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564429	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586853	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9636309	0.80[AMR][1000 genomes]
rs9808245	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3451292	chr2:190225623-190266276	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190233000-190236400	Enhancers	Osteobl	bone
2	chr2:190233400-190236000	Enhancers	NH-A	brain
3	chr2:190233400-190241400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:190233600-190235800	Enhancers	NHDF-Ad	bronchial
5	chr2:190233800-190235200	Enhancers	HSMM	muscle
6	chr2:190234000-190235800	Enhancers	NHLF	lung
7	chr2:190234000-190236800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:190234400-190235000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:190234400-190235000	Flanking Active TSS	A549	lung
10	chr2:190234400-190235400	Enhancers	Hela-S3	cervix
11	chr2:190234400-190235800	Enhancers	NHEK	skin
12	chr2:190234600-190235000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:190234600-190235000	Enhancers	Adipose Nuclei	Adipose
14	chr2:190234600-190235000	Enhancers	Ovary	ovary
15	chr2:190234600-190235400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:190234600-190235600	Flanking Active TSS	HUVEC	blood vessel
17	chr2:190234600-190235800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:190234600-190235800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:190234600-190236000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:190234600-190236000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:190234600-190236200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:190234600-190237000	Enhancers	HMEC	breast
23	chr2:190234800-190235000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:190234800-190235000	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:190234800-190235000	Enhancers	HSMMtube	muscle
26	chr2:190234800-190235600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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