Variant report

Variant	rs11974885
Chromosome Location	chr7:98891155-98891156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98890111-98895513	K562	blood:	n/a	n/a

Variant related genes	Relation type
MYH16	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10215854	1.00[CHB][hapmap]
rs10235235	1.00[CHB][hapmap]
rs10268984	1.00[CHB][hapmap]
rs10808111	1.00[CHB][hapmap]
rs10808112	1.00[CHB][hapmap]
rs10953288	1.00[CHB][hapmap]
rs11771702	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11972017	1.00[CHB][hapmap]
rs11973173	1.00[CHB][hapmap]
rs11974593	1.00[CHB][hapmap]
rs11976700	0.94[ASN][1000 genomes]
rs11977673	0.87[CEU][hapmap]
rs11978345	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11978582	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12112936	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12113440	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12531852	1.00[CHB][hapmap]
rs12535424	1.00[CHB][hapmap]
rs12538893	0.80[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13243267	1.00[CHB][hapmap]
rs17161662	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161669	1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17161687	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs17161695	1.00[JPT][hapmap]
rs35296070	1.00[CHB][hapmap]
rs59131705	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6651108	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs68164591	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6957987	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6958704	0.95[ASN][1000 genomes]
rs6960805	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs6960810	1.00[CHB][hapmap]
rs6961579	1.00[CHB][hapmap]
rs6973408	0.95[ASN][1000 genomes]
rs73395508	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs733991	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs740160	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs9969217	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969386	0.85[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
rs11974885	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98860600-98892800	Weak transcription	Right Atrium	heart
2	chr7:98865400-98899200	Weak transcription	Spleen	Spleen
3	chr7:98873200-98905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:98874800-98906800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:98881200-98899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:98885800-98891400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:98889000-98891400	Weak transcription	Stomach Mucosa	stomach
8	chr7:98890000-98894400	Weak transcription	Lung	lung
9	chr7:98890400-98894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:98890800-98892000	Enhancers	HepG2	liver
11	chr7:98890800-98905800	Weak transcription	Pancreas	Pancrea
12	chr7:98891000-98891200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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