Variant report

Variant	rs4923972
Chromosome Location	chr15:44329256-44329257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10152607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10518994	0.97[EUR][1000 genomes]
rs10851415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10851416	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115870	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1160066	0.88[EUR][1000 genomes]
rs11631340	0.94[EUR][1000 genomes]
rs11632901	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11635948	0.97[EUR][1000 genomes]
rs11638352	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11854312	0.97[EUR][1000 genomes]
rs11857696	0.97[EUR][1000 genomes]
rs12324261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437804	0.97[EUR][1000 genomes]
rs12591537	0.97[EUR][1000 genomes]
rs12900880	1.00[EUR][1000 genomes]
rs12913809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1365456	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1426658	1.00[EUR][1000 genomes]
rs1808509	0.88[EUR][1000 genomes]
rs1820482	1.00[EUR][1000 genomes]
rs2015277	0.82[EUR][1000 genomes]
rs2019074	0.88[EUR][1000 genomes]
rs2042741	0.97[EUR][1000 genomes]
rs2059626	0.88[EUR][1000 genomes]
rs2059627	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2059628	0.88[EUR][1000 genomes]
rs2114420	0.97[EUR][1000 genomes]
rs2114421	0.97[EUR][1000 genomes]
rs2412845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412846	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412847	1.00[EUR][1000 genomes]
rs2412848	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412850	0.97[EUR][1000 genomes]
rs2412851	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412852	0.97[EUR][1000 genomes]
rs2412853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412855	0.97[EUR][1000 genomes]
rs2555375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555380	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555385	0.88[EUR][1000 genomes]
rs2615285	0.88[EUR][1000 genomes]
rs2615287	0.88[EUR][1000 genomes]
rs2615288	0.88[EUR][1000 genomes]
rs2615290	0.88[EUR][1000 genomes]
rs2615291	0.86[EUR][1000 genomes]
rs2615292	0.88[EUR][1000 genomes]
rs2615294	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2615295	0.88[EUR][1000 genomes]
rs2615297	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2623017	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2623019	0.91[EUR][1000 genomes]
rs2706471	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2706473	0.88[EUR][1000 genomes]
rs2706474	0.88[EUR][1000 genomes]
rs2706481	0.91[EUR][1000 genomes]
rs2706488	0.97[EUR][1000 genomes]
rs2733203	0.88[EUR][1000 genomes]
rs2733204	0.88[EUR][1000 genomes]
rs2733221	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733226	0.91[EUR][1000 genomes]
rs28667396	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929281	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2930528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957581	0.88[EUR][1000 genomes]
rs2957583	0.97[EUR][1000 genomes]
rs3919618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4419034	0.97[EUR][1000 genomes]
rs4923969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924727	0.94[EUR][1000 genomes]
rs4924728	1.00[EUR][1000 genomes]
rs4924729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4924734	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924735	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924737	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493094	1.00[EUR][1000 genomes]
rs7166715	0.88[EUR][1000 genomes]
rs7176955	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035212	0.97[EUR][1000 genomes]
rs8036541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037441	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037596	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038096	0.97[EUR][1000 genomes]
rs8041487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041650	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs890465	0.97[EUR][1000 genomes]
rs958485	0.97[EUR][1000 genomes]
rs9920249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1045362	chr15:44280481-44414443	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv832989	chr15:44306469-44461710	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44322800-44330800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:44323000-44330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:44326400-44330800	Weak transcription	Hela-S3	cervix
4	chr15:44327000-44330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:44327600-44330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:44327600-44330800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:44327800-44330600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:44327800-44330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:44327800-44331000	Weak transcription	Fetal Heart	heart
10	chr15:44328400-44330800	Weak transcription	HSMMtube	muscle
11	chr15:44328400-44331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:44328400-44331000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:44328400-44331000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:44328400-44331000	Weak transcription	HSMM	muscle
15	chr15:44328600-44330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:44328600-44330800	Weak transcription	NH-A	brain
17	chr15:44328600-44331000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:44328600-44331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:44328800-44330800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:44328800-44330800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:44328800-44331000	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:44328800-44331000	Weak transcription	NHLF	lung
23	chr15:44328800-44331000	Weak transcription	Osteobl	bone
24	chr15:44329000-44330800	Weak transcription	Brain Angular Gyrus	brain
25	chr15:44329000-44330800	Weak transcription	Brain Anterior Caudate	brain
26	chr15:44329000-44337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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