Variant report

Variant	rs7463588
Chromosome Location	chr8:121878404-121878405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10094772	0.91[CHB][hapmap]
rs10108201	0.87[CEU][hapmap]
rs10955995	0.80[EUR][1000 genomes]
rs12681019	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12682500	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12682501	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2891944	0.92[CHB][hapmap]
rs4332176	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4498598	0.96[AMR][1000 genomes];0.96[EUR][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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121874200-121881000	Weak transcription	Psoas Muscle	Psoas
2	chr8:121874400-121880000	Weak transcription	Liver	Liver
3	chr8:121874600-121880400	Weak transcription	Osteobl	bone
4	chr8:121874600-121880600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:121874800-121880600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:121874800-121881000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:121875000-121879800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:121875000-121880000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:121875000-121880400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:121875200-121880600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:121875200-121880800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:121878200-121880400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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