Variant report

Variant	rs16823452
Chromosome Location	chr1:184755258-184755259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184740567..184743052-chr1:184753891..184756222,2	K562	blood:
2	chr1:184754385..184756569-chr1:184766259..184767996,2	K562	blood:
3	chr1:184749682..184752020-chr1:184754702..184757853,3	K562	blood:
4	chr1:184752401..184756429-chr1:184757570..184760827,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56385425	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664204	0.80[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132036	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132037	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74132038	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7520163	0.80[AFR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184743000-184761600	Weak transcription	Aorta	Aorta
2	chr1:184750400-184757600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:184750600-184760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:184752200-184761800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:184754000-184755600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184754400-184758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:184754400-184761200	Weak transcription	Left Ventricle	heart
8	chr1:184754600-184755600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:184754600-184758200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:184754600-184759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:184754800-184755600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:184754800-184759000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:184755200-184759000	Weak transcription	Gastric	stomach

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