Variant report

Variant	rs1998818
Chromosome Location	chr1:153030308-153030309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10494283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494284	1.00[AMR][1000 genomes]
rs10494286	1.00[AMR][1000 genomes]
rs10494287	1.00[AMR][1000 genomes]
rs10494289	1.00[AMR][1000 genomes]
rs1611758	1.00[AMR][1000 genomes]
rs1611769	1.00[AMR][1000 genomes]
rs16829001	1.00[AMR][1000 genomes]
rs16829018	1.00[AMR][1000 genomes]
rs16834786	1.00[AMR][1000 genomes]
rs16834788	1.00[AMR][1000 genomes]
rs16834793	1.00[AMR][1000 genomes]
rs16834804	1.00[AMR][1000 genomes]
rs16834825	1.00[AMR][1000 genomes]
rs16834841	1.00[AMR][1000 genomes]
rs16834843	1.00[AMR][1000 genomes]
rs16834855	1.00[AMR][1000 genomes]
rs16834863	1.00[AMR][1000 genomes]
rs16834869	1.00[AMR][1000 genomes]
rs16834878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834890	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878691	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883580	1.00[AMR][1000 genomes]
rs1846854	0.86[AFR][1000 genomes]
rs1933385	1.00[AMR][1000 genomes]
rs1933387	1.00[AMR][1000 genomes]
rs28924715	1.00[AMR][1000 genomes]
rs3806220	1.00[AMR][1000 genomes]
rs3964618	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4378151	1.00[AMR][1000 genomes]
rs4433340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57055311	1.00[AMR][1000 genomes]
rs57242863	1.00[AMR][1000 genomes]
rs57450008	1.00[AMR][1000 genomes]
rs57458543	1.00[AMR][1000 genomes]
rs58109785	1.00[AMR][1000 genomes]
rs58783614	1.00[AMR][1000 genomes]
rs59237147	1.00[AMR][1000 genomes]
rs59460179	1.00[AMR][1000 genomes]
rs61089580	1.00[AMR][1000 genomes]
rs73010427	1.00[AMR][1000 genomes]
rs73010429	1.00[AMR][1000 genomes]
rs73010443	1.00[AMR][1000 genomes]
rs73010447	1.00[AMR][1000 genomes]
rs73010449	1.00[AMR][1000 genomes]
rs73010452	1.00[AMR][1000 genomes]
rs73010454	1.00[AMR][1000 genomes]
rs73010458	1.00[AMR][1000 genomes]
rs73010459	1.00[AMR][1000 genomes]
rs73012481	1.00[AMR][1000 genomes]
rs73012485	1.00[AMR][1000 genomes]
rs73012496	1.00[AMR][1000 genomes]
rs73012500	1.00[AMR][1000 genomes]
rs73014324	1.00[AMR][1000 genomes]
rs73014333	1.00[AMR][1000 genomes]
rs73014337	1.00[AMR][1000 genomes]
rs73014398	1.00[AMR][1000 genomes]
rs73014402	1.00[AMR][1000 genomes]
rs73016303	1.00[AMR][1000 genomes]
rs73016322	1.00[AMR][1000 genomes]
rs883809	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1003756	chr1:152944201-153044621	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3424702	chr1:153015726-153032343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153029000-153030400	Weak transcription	K562	blood
2	chr1:153029800-153030600	Enhancers	HMEC	breast
3	chr1:153029800-153032400	Enhancers	NHEK	skin
4	chr1:153030000-153030400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:153030000-153030400	Weak transcription	Esophagus	oesophagus
6	chr1:153030000-153032400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:153030200-153030800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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