Variant report

Variant	rs6665598
Chromosome Location	chr1:172060598-172060599
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10218579	0.84[ASN][1000 genomes]
rs10752861	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911275	0.82[CEU][hapmap]
rs12061795	0.85[ASN][1000 genomes]
rs12090953	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2761184	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2761185	0.84[EUR][1000 genomes]
rs2761186	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2761187	0.82[EUR][1000 genomes]
rs2761190	0.84[EUR][1000 genomes]
rs2819531	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs28378748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4244191	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4641331	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916242	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425637	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172041200-172060800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:172041400-172061600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:172041800-172061200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
7	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
8	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:172052400-172060800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:172057800-172060600	Weak transcription	Ovary	ovary
12	chr1:172057800-172074000	Weak transcription	Fetal Lung	lung
13	chr1:172059600-172064800	Weak transcription	Fetal Stomach	stomach
14	chr1:172060000-172061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:172060000-172062000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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