Variant report

Variant	rs74090476
Chromosome Location	chr1:77820505-77820506
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77813535..77817247-chr1:77819129..77821661,3	K562	blood:
2	chr1:77820213..77822574-chr1:77837980..77839971,2	K562	blood:

Variant related genes	Relation type
ENSG00000233099	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56099019	1.00[AMR][1000 genomes]
rs57002064	1.00[AMR][1000 genomes]
rs58413428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59621284	1.00[AMR][1000 genomes]
rs60276611	1.00[AMR][1000 genomes]
rs6700151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090412	1.00[AMR][1000 genomes]
rs74090413	1.00[AMR][1000 genomes]
rs74090415	1.00[AMR][1000 genomes]
rs74090434	1.00[AMR][1000 genomes]
rs74090455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090467	1.00[AFR][1000 genomes]
rs74090474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090490	1.00[AMR][1000 genomes]
rs74090495	1.00[AMR][1000 genomes]
rs74092439	1.00[AMR][1000 genomes]
rs74092446	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77789000-77831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77795000-77836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:77801000-77825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:77813800-77820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:77813800-77820600	Weak transcription	NHLF	lung
7	chr1:77813800-77834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:77814000-77820800	Weak transcription	HSMMtube	muscle
9	chr1:77814400-77835600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:77816000-77824000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:77816200-77825800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:77817400-77834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:77819200-77821400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:77819400-77820600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:77819400-77821000	Enhancers	Brain Hippocampus Middle	brain
16	chr1:77819600-77821000	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:77819800-77822200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:77819800-77826800	Weak transcription	NHDF-Ad	bronchial
19	chr1:77819800-77835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:77820000-77820600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:77820200-77821400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:77820200-77823600	Weak transcription	Fetal Brain Male	brain
23	chr1:77820400-77821400	Enhancers	HSMM	muscle
24	chr1:77820400-77821400	Enhancers	Osteobl	bone
25	chr1:77820400-77823400	Weak transcription	Brain Angular Gyrus	brain
26	chr1:77820400-77836400	Weak transcription	Primary T cells from cord blood	blood

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