Variant report

Variant	rs17430580
Chromosome Location	chr1:102313766-102313767
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1415099	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539091	1.00[CHB][hapmap]
rs1577717	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125616	1.00[ASN][1000 genomes]
rs17431961	1.00[ASN][1000 genomes]
rs17432141	1.00[ASN][1000 genomes]
rs17470860	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856037	1.00[CHB][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1981158	1.00[ASN][1000 genomes]
rs4907956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6682150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729689	1.00[ASN][1000 genomes]
rs7536632	1.00[CHB][hapmap]
rs9943151	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943277	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv522156	chr1:102309649-102421714	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102312800-102314200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:102312800-102314800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:102312800-102320400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:102313000-102314800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:102313400-102314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:102313400-102314600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:102313400-102315000	Weak transcription	Fetal Kidney	kidney
8	chr1:102313600-102314600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:102313600-102314800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:102313600-102315000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:102313600-102315800	Enhancers	Fetal Intestine Large	intestine

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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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