Variant report

Variant	rs554217
Chromosome Location	chr1:74768022-74768023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1067847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095389	1.00[AMR][1000 genomes]
rs17095391	1.00[AMR][1000 genomes]
rs17095394	1.00[AMR][1000 genomes]
rs17095399	1.00[AMR][1000 genomes]
rs17095400	1.00[AMR][1000 genomes]
rs1832807	1.00[YRI][hapmap]
rs2100212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4469677	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs45440691	1.00[AMR][1000 genomes]
rs45518034	1.00[AMR][1000 genomes]
rs45550040	1.00[AMR][1000 genomes]
rs45575343	1.00[AMR][1000 genomes]
rs45596933	1.00[AMR][1000 genomes]
rs45619234	1.00[AMR][1000 genomes]
rs45627331	1.00[AMR][1000 genomes]
rs472013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480964	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs483187	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488112	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488263	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs494008	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499551	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs513169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515599	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs517169	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs531116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536804	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540990	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs543499	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs543839	1.00[AMR][1000 genomes]
rs548802	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554910	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561212	0.83[AFR][1000 genomes]
rs563072	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56659298	1.00[AMR][1000 genomes]
rs570273	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579214	0.83[AFR][1000 genomes]
rs6701961	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv428785	chr1:74640545-74818577	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv870486	chr1:74654182-74804833	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv870554	chr1:74678285-74804833	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv523474	chr1:74699099-74794119	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv870653	chr1:74718578-74793878	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv871150	chr1:74734443-74821837	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv870585	chr1:74737597-74769267	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv871795	chr1:74737597-74782279	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv546575	chr1:74743034-74821837	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv870951	chr1:74749322-74782279	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv870654	chr1:74762198-74858724	ZNF genes & repeats Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart
2	chr1:74764000-74771000	Weak transcription	Left Ventricle	heart
3	chr1:74766000-74771000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:74768000-74768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:74768000-74769200	Weak transcription	Adipose Nuclei	Adipose

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