Variant report

Variant	rs2114416
Chromosome Location	chr15:44439591-44439592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1115870	0.81[AFR][1000 genomes]
rs1160066	0.80[EUR][1000 genomes]
rs1426657	1.00[EUR][1000 genomes]
rs1808509	0.80[EUR][1000 genomes]
rs1813196	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1820484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1820485	1.00[EUR][1000 genomes]
rs1834641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2019074	0.80[EUR][1000 genomes]
rs2042738	1.00[EUR][1000 genomes]
rs2042739	1.00[EUR][1000 genomes]
rs2059627	0.91[AFR][1000 genomes]
rs2059628	0.80[EUR][1000 genomes]
rs2114415	0.87[EUR][1000 genomes]
rs2114422	1.00[EUR][1000 genomes]
rs2162365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2162366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555366	0.95[EUR][1000 genomes]
rs2555368	1.00[EUR][1000 genomes]
rs2555376	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2555380	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2555382	1.00[EUR][1000 genomes]
rs2555384	1.00[EUR][1000 genomes]
rs2555385	0.80[EUR][1000 genomes]
rs2555387	0.84[EUR][1000 genomes]
rs2555389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615268	0.97[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2615269	1.00[EUR][1000 genomes]
rs2615271	0.80[EUR][1000 genomes]
rs2615272	0.98[AFR][1000 genomes]
rs2615277	0.88[EUR][1000 genomes]
rs2615278	0.84[EUR][1000 genomes]
rs2615280	1.00[EUR][1000 genomes]
rs2615281	0.86[EUR][1000 genomes]
rs2615285	0.80[EUR][1000 genomes]
rs2615286	1.00[EUR][1000 genomes]
rs2615287	0.80[EUR][1000 genomes]
rs2615288	0.80[EUR][1000 genomes]
rs2615290	0.80[EUR][1000 genomes]
rs2615292	0.80[EUR][1000 genomes]
rs2615294	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2615295	0.80[EUR][1000 genomes]
rs2615297	0.86[AFR][1000 genomes]
rs2615299	0.88[EUR][1000 genomes]
rs2615303	0.86[EUR][1000 genomes]
rs2623017	0.87[AFR][1000 genomes]
rs2663990	0.88[EUR][1000 genomes]
rs2696098	0.86[EUR][1000 genomes]
rs2706471	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2706472	0.98[EUR][1000 genomes]
rs2706473	0.80[EUR][1000 genomes]
rs2706474	0.80[EUR][1000 genomes]
rs2706486	1.00[EUR][1000 genomes]
rs2706487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2706490	1.00[EUR][1000 genomes]
rs2706491	0.93[EUR][1000 genomes]
rs2706492	1.00[EUR][1000 genomes]
rs2706495	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733203	0.80[EUR][1000 genomes]
rs2733204	0.80[EUR][1000 genomes]
rs2733208	1.00[EUR][1000 genomes]
rs2733209	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733213	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733221	0.83[AFR][1000 genomes]
rs2733234	0.86[EUR][1000 genomes]
rs2957581	0.80[EUR][1000 genomes]
rs7166715	0.80[EUR][1000 genomes]
rs7174819	0.88[EUR][1000 genomes]
rs8042697	1.00[EUR][1000 genomes]
rs8042916	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44430400-44447200	Weak transcription	NHEK	skin
2	chr15:44430800-44449000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:44437400-44451000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:44437600-44439800	Weak transcription	Brain Substantia Nigra	brain
5	chr15:44438000-44447800	Weak transcription	NH-A	brain
6	chr15:44438400-44439800	Weak transcription	Brain Anterior Caudate	brain
7	chr15:44438400-44439800	Weak transcription	Fetal Heart	heart
8	chr15:44438400-44449000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:44439400-44440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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