Variant report

Variant	rs2019074
Chromosome Location	chr15:44409870-44409871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10152607	0.88[EUR][1000 genomes]
rs10459588	0.81[AMR][1000 genomes]
rs10518994	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10851415	0.85[EUR][1000 genomes]
rs10851416	0.88[EUR][1000 genomes]
rs11070419	0.88[EUR][1000 genomes]
rs1115870	0.97[EUR][1000 genomes]
rs1160066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11631340	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11632901	0.88[EUR][1000 genomes]
rs11635948	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638352	0.85[EUR][1000 genomes]
rs11854312	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11857696	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324261	0.88[EUR][1000 genomes]
rs12437804	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591537	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12900237	0.83[ASN][1000 genomes]
rs12900880	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12908345	0.92[ASN][1000 genomes]
rs12913809	0.83[EUR][1000 genomes]
rs13379739	0.90[ASN][1000 genomes]
rs1365456	0.88[EUR][1000 genomes]
rs1365457	0.94[ASN][1000 genomes]
rs1426657	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426658	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1807974	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1808509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820482	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1820484	0.80[EUR][1000 genomes]
rs1820485	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015277	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042738	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042739	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042741	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059626	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2059627	0.92[EUR][1000 genomes]
rs2059628	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114415	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2114416	0.80[EUR][1000 genomes]
rs2114417	0.83[AMR][1000 genomes]
rs2114420	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2114421	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2114422	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2162365	0.80[EUR][1000 genomes]
rs2162366	0.80[EUR][1000 genomes]
rs2217108	0.80[EUR][1000 genomes]
rs2412845	0.88[EUR][1000 genomes]
rs2412846	0.88[EUR][1000 genomes]
rs2412847	0.88[EUR][1000 genomes]
rs2412848	0.88[EUR][1000 genomes]
rs2412850	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2412851	0.88[EUR][1000 genomes]
rs2412852	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412853	0.88[EUR][1000 genomes]
rs2412854	0.88[EUR][1000 genomes]
rs2412855	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2555366	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2555368	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2555369	0.84[AFR][1000 genomes]
rs2555375	0.88[EUR][1000 genomes]
rs2555380	1.00[EUR][1000 genomes]
rs2555382	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2555384	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555385	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555387	0.90[ASN][1000 genomes]
rs2555389	0.80[EUR][1000 genomes]
rs2615269	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2615271	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2615278	0.89[ASN][1000 genomes]
rs2615280	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615281	0.90[ASN][1000 genomes]
rs2615285	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615286	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615287	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615288	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615290	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615291	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615292	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615294	1.00[EUR][1000 genomes]
rs2615295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615297	0.97[EUR][1000 genomes]
rs2623017	0.91[EUR][1000 genomes]
rs2623019	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706470	0.83[AFR][1000 genomes]
rs2706471	1.00[EUR][1000 genomes]
rs2706472	0.98[ASN][1000 genomes]
rs2706473	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706481	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706486	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706488	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2706490	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706491	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2706492	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706493	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2733203	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733204	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733208	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2733210	0.90[ASN][1000 genomes]
rs2733221	0.91[EUR][1000 genomes]
rs2733226	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28667396	0.88[EUR][1000 genomes]
rs28673086	0.86[ASN][1000 genomes]
rs2899103	0.88[EUR][1000 genomes]
rs2929281	0.85[EUR][1000 genomes]
rs2930528	0.88[EUR][1000 genomes]
rs2957581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957583	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3919618	0.88[EUR][1000 genomes]
rs4419034	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597286	0.82[ASN][1000 genomes]
rs4923969	0.88[EUR][1000 genomes]
rs4923972	0.88[EUR][1000 genomes]
rs4924727	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4924728	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4924729	0.88[EUR][1000 genomes]
rs4924731	0.85[EUR][1000 genomes]
rs4924734	0.88[EUR][1000 genomes]
rs4924735	0.88[EUR][1000 genomes]
rs4924737	0.88[EUR][1000 genomes]
rs6493092	0.88[EUR][1000 genomes]
rs6493093	0.88[EUR][1000 genomes]
rs6493094	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7166715	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7176955	0.88[EUR][1000 genomes]
rs8030309	0.90[ASN][1000 genomes]
rs8033233	0.88[EUR][1000 genomes]
rs8035212	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8036541	0.88[EUR][1000 genomes]
rs8037441	0.88[EUR][1000 genomes]
rs8037596	0.88[EUR][1000 genomes]
rs8038096	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8039970	0.98[ASN][1000 genomes]
rs8041487	0.88[EUR][1000 genomes]
rs8042697	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042916	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs890465	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs958485	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9920249	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
8	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44396200-44413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:44405800-44410000	Enhancers	Brain Hippocampus Middle	brain
3	chr15:44406400-44411000	Enhancers	Brain Cingulate Gyrus	brain
4	chr15:44407200-44412200	Weak transcription	Brain Angular Gyrus	brain
5	chr15:44408800-44412600	Weak transcription	HSMMtube	muscle
6	chr15:44409000-44412000	Weak transcription	Fetal Heart	heart
7	chr15:44409400-44410000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:44409600-44411800	Weak transcription	Brain Anterior Caudate	brain
9	chr15:44409800-44410000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:44409800-44410200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:44409800-44411800	Weak transcription	Brain Substantia Nigra	brain

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