Variant report

Variant	rs4924729
Chromosome Location	chr15:44291244-44291245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10459588	1.00[CEU][hapmap]
rs10518994	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10851415	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10851416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070417	0.82[AFR][1000 genomes]
rs11070419	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115870	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1160066	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11631340	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11632901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11635948	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11638352	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11854312	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11857696	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12324261	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437804	1.00[CEU][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs12591537	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12900237	1.00[CEU][hapmap]
rs12900880	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12913809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1365456	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1426657	1.00[CEU][hapmap]
rs1426658	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[EUR][1000 genomes]
rs1808509	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1820482	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];1.00[EUR][1000 genomes]
rs1834641	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs2015277	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2019074	0.88[EUR][1000 genomes]
rs2042738	1.00[CEU][hapmap]
rs2042739	1.00[CEU][hapmap]
rs2042741	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2114422	1.00[CEU][hapmap]
rs2162365	0.96[YRI][hapmap]
rs2162366	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs2217108	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs2412845	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412846	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412847	1.00[EUR][1000 genomes]
rs2412848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412849	1.00[CEU][hapmap]
rs2412850	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2412851	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412852	0.97[EUR][1000 genomes]
rs2412853	0.83[ASW][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412854	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412855	0.97[EUR][1000 genomes]
rs2555375	1.00[CEU][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555376	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs2555380	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555384	1.00[CEU][hapmap]
rs2555385	0.88[EUR][1000 genomes]
rs2555387	1.00[CEU][hapmap]
rs2555389	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2615278	1.00[CEU][hapmap]
rs2615281	1.00[CEU][hapmap]
rs2615285	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2615287	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2615288	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2615290	0.88[EUR][1000 genomes]
rs2615291	0.86[EUR][1000 genomes]
rs2615292	0.88[EUR][1000 genomes]
rs2615293	1.00[CEU][hapmap]
rs2615294	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2615295	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2615297	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2623017	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2623019	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2696094	1.00[CEU][hapmap]
rs2696098	1.00[CEU][hapmap]
rs2706471	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2706472	1.00[CEU][hapmap]
rs2706473	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2706474	0.88[EUR][1000 genomes]
rs2706481	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2706486	1.00[CEU][hapmap]
rs2706487	1.00[CEU][hapmap]
rs2706488	1.00[CEU][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs2706490	1.00[CEU][hapmap]
rs2706495	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs2733203	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2733204	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2733208	1.00[CEU][hapmap]
rs2733209	1.00[CEU][hapmap]
rs2733213	1.00[CEU][hapmap]
rs2733221	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733226	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28667396	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899103	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929275	0.92[GIH][hapmap]
rs2929281	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2930528	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957581	1.00[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs2957583	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3919618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4419034	0.97[EUR][1000 genomes]
rs4923969	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4923972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4923976	1.00[CEU][hapmap]
rs4924727	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4924728	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4924731	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4924734	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924735	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924737	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493092	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493093	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493094	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[EUR][1000 genomes]
rs7166715	1.00[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs7176955	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033233	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035212	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8035382	1.00[GIH][hapmap]
rs8035402	1.00[GIH][hapmap]
rs8036541	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037596	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038096	1.00[CEU][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs8041487	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[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	1.00[CEU][hapmap];0.82[TSI][hapmap];0.97[EUR][1000 genomes]
rs958485	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9920249	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44263000-44295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:44269800-44291800	Weak transcription	NH-A	brain
3	chr15:44269800-44292200	Weak transcription	HMEC	breast
4	chr15:44277400-44292400	Weak transcription	NHLF	lung
5	chr15:44278200-44295400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:44280400-44292400	Weak transcription	Right Ventricle	heart
7	chr15:44282000-44296800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:44282400-44292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:44288400-44295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:44288600-44301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:44289800-44291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:44290200-44293200	Enhancers	Brain Substantia Nigra	brain
13	chr15:44290400-44292600	Enhancers	Fetal Heart	heart
14	chr15:44290600-44291400	Enhancers	Brain Angular Gyrus	brain
15	chr15:44290600-44291400	Flanking Active TSS	HUVEC	blood vessel
16	chr15:44290600-44291600	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:44290600-44292600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:44290600-44292600	Enhancers	NHDF-Ad	bronchial
19	chr15:44290600-44292600	Enhancers	NHEK	skin
20	chr15:44290600-44294000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:44290800-44291400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:44290800-44291400	Enhancers	Adipose Nuclei	Adipose
23	chr15:44290800-44291400	Enhancers	HSMM	muscle
24	chr15:44290800-44291600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:44290800-44291600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:44290800-44291600	Enhancers	Stomach Mucosa	stomach
27	chr15:44290800-44292600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:44291000-44291400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:44291000-44291400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:44291000-44291400	Active TSS	Duodenum Mucosa	Duodenum
31	chr15:44291000-44291400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:44291000-44292600	Enhancers	Left Ventricle	heart
33	chr15:44291200-44291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:44291200-44291400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:44291200-44291400	Active TSS	HSMMtube	muscle
36	chr15:44291200-44292200	Weak transcription	Brain Anterior Caudate	brain
37	chr15:44291200-44292200	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:44291200-44292200	Weak transcription	Right Atrium	heart
39	chr15:44291200-44292400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:44291200-44292400	Weak transcription	Fetal Muscle Leg	muscle

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