Variant report

Variant	rs72900848
Chromosome Location	chr2:189529419-189529420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10170845	1.00[AMR][1000 genomes]
rs10445725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10445726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11676244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11676569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11678718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11679949	0.86[EUR][1000 genomes]
rs11681365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11682895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11683909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11683969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11685643	0.86[EUR][1000 genomes]
rs11687872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11688482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11692432	1.00[ASN][1000 genomes]
rs11693105	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11695177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11695327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34323074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34587834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57067423	0.86[EUR][1000 genomes]
rs57210291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57351486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59668663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60162413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60307701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60514585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60602630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60608780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60894296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60916684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61500341	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898898	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72900857	0.86[EUR][1000 genomes]
rs72900861	0.86[EUR][1000 genomes]
rs72900862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72900870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902659	1.00[AMR][1000 genomes]
rs72902678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906616	1.00[AMR][1000 genomes]
rs72906620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906646	1.00[AMR][1000 genomes]
rs72906655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911497	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72913327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72913360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72913365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7423329	0.80[EUR][1000 genomes]
rs7579593	0.86[EUR][1000 genomes]
rs7579655	0.86[EUR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189525000-189529800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:189525000-189532800	Weak transcription	A549	lung
3	chr2:189525000-189534000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:189528200-189532400	Weak transcription	NHLF	lung
5	chr2:189528600-189530600	Enhancers	NHDF-Ad	bronchial
6	chr2:189528800-189530400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:189529000-189529600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:189529000-189530200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:189529000-189530200	Enhancers	Fetal Lung	lung
10	chr2:189529200-189529800	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:189529200-189530200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:189529200-189530200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:189529200-189530400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:189529200-189530400	Enhancers	NH-A	brain
15	chr2:189529200-189530600	Enhancers	Osteobl	bone
16	chr2:189529400-189529800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:189529400-189529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:189529400-189530000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:189529400-189530400	Enhancers	Colon Smooth Muscle	Colon
20	chr2:189529400-189530600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:189529400-189531200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:189529400-189539000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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