Variant report

Variant	rs1532509
Chromosome Location	chr1:77923456-77923457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77921275..77923529-chr1:77924808..77927657,2	K562	blood:
2	chr1:77922521..77925013-chr1:77930694..77933146,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735749	1.00[AMR][1000 genomes]
rs1353726	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1377736	1.00[AMR][1000 genomes]
rs1874818	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2349964	1.00[AMR][1000 genomes]
rs2602939	1.00[AMR][1000 genomes]
rs2602940	1.00[AMR][1000 genomes]
rs2647484	1.00[AMR][1000 genomes]
rs2647526	1.00[AMR][1000 genomes]
rs2803142	1.00[AMR][1000 genomes]
rs2803144	1.00[AMR][1000 genomes]
rs2803148	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2803149	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs2815305	1.00[AMR][1000 genomes]
rs2815336	1.00[AMR][1000 genomes]
rs3113636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35352712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4351701	1.00[AMR][1000 genomes]
rs4949799	1.00[AMR][1000 genomes]
rs6603942	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
2	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:77911200-77934000	Weak transcription	HSMM	muscle
4	chr1:77912800-77925000	Weak transcription	NHDF-Ad	bronchial
5	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:77913200-77930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:77913400-77929400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:77914000-77924400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:77914800-77925000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:77915200-77924600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:77915200-77933600	Weak transcription	NHLF	lung
15	chr1:77921800-77930200	Weak transcription	Brain Substantia Nigra	brain

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