Variant report

Variant	rs73395508
Chromosome Location	chr7:98901894-98901895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11771702	1.00[ASN][1000 genomes]
rs11974885	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11976700	0.89[ASN][1000 genomes]
rs12112936	1.00[ASN][1000 genomes]
rs12113440	1.00[ASN][1000 genomes]
rs12538893	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161662	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59131705	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651108	0.89[ASN][1000 genomes]
rs68164591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957987	1.00[ASN][1000 genomes]
rs6958704	1.00[ASN][1000 genomes]
rs6973408	1.00[ASN][1000 genomes]
rs733991	1.00[ASN][1000 genomes]
rs9969217	0.85[ASN][1000 genomes]
rs9969386	0.81[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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73395508	GS1-259H13.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98873200-98905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:98874800-98906800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:98890800-98905800	Weak transcription	Pancreas	Pancrea
4	chr7:98893200-98906600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:98893800-98906000	Weak transcription	HMEC	breast
6	chr7:98897200-98903200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:98899200-98907800	Weak transcription	Aorta	Aorta
8	chr7:98899400-98907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:98899400-98907200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:98900800-98903600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:98901000-98903200	Weak transcription	iPS DF 19.11 Cell Line	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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