Variant report

Variant	rs17113998
Chromosome Location	chr1:56927619-56927620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11588501	1.00[CEU][hapmap]
rs12568903	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113967	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113979	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113995	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114004	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114014	0.85[AFR][1000 genomes]
rs17114017	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17114023	0.81[YRI][hapmap]
rs17114029	1.00[JPT][hapmap]
rs17415442	0.86[ASN][1000 genomes]
rs2151392	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151393	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184106	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912285	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60916914	0.96[AFR][1000 genomes]
rs61309058	0.96[AFR][1000 genomes]
rs61615411	0.82[AMR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56915200-56935800	Weak transcription	NHLF	lung
4	chr1:56919200-56930000	Weak transcription	NHDF-Ad	bronchial
5	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach
6	chr1:56922800-56929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:56922800-56934200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:56923600-56930000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:56924000-56934200	Weak transcription	Right Atrium	heart
10	chr1:56924200-56931800	Weak transcription	Left Ventricle	heart
11	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
12	chr1:56926600-56927800	Enhancers	Liver	Liver
13	chr1:56926600-56927800	Enhancers	Fetal Intestine Small	intestine
14	chr1:56926600-56928200	Enhancers	Fetal Intestine Large	intestine
15	chr1:56926600-56928200	Enhancers	Fetal Thymus	thymus
16	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
17	chr1:56927200-56927800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:56927600-56927800	Enhancers	Stomach Mucosa	stomach
19	chr1:56927600-56928200	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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