Variant report

Variant	rs2305597
Chromosome Location	chr8:121209000-121209001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13257307	0.85[MEX][hapmap]
rs35784860	0.81[ASN][1000 genomes]
rs4870722	0.81[ASN][1000 genomes]
rs59767583	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988293	0.94[ASW][hapmap];0.80[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs6994973	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs6996780	0.81[ASN][1000 genomes]
rs7004406	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005932	0.85[MEX][hapmap]
rs7015242	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7018223	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2305597	TDRG1	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121189800-121209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:121197800-121221400	Weak transcription	Aorta	Aorta
3	chr8:121206400-121216600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:121206600-121223600	Weak transcription	Placenta	Placenta
5	chr8:121208000-121209200	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:121208200-121216600	Weak transcription	Ovary	ovary
7	chr8:121208400-121209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:121208400-121209000	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:121208400-121209200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121208400-121209200	Enhancers	Fetal Lung	lung
11	chr8:121208600-121209200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:121208600-121209400	Enhancers	Adipose Nuclei	Adipose
13	chr8:121208800-121216800	Weak transcription	Gastric	stomach
14	chr8:121208800-121217200	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:121209000-121209200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:121209000-121209200	Enhancers	Fetal Stomach	stomach
17	chr8:121209000-121209200	Enhancers	Stomach Smooth Muscle	stomach

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Input of quick search could be:

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

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