Variant report

Variant	rs2949327
Chromosome Location	chr7:101423886-101423887
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10228981	0.89[ASN][1000 genomes]
rs10247290	0.89[ASN][1000 genomes]
rs10258318	0.89[ASN][1000 genomes]
rs11975225	0.89[ASN][1000 genomes]
rs11977362	0.80[ASN][1000 genomes]
rs11977381	0.80[ASN][1000 genomes]
rs11984246	0.80[ASN][1000 genomes]
rs17135758	0.89[ASN][1000 genomes]
rs28416662	0.89[ASN][1000 genomes]
rs28419515	0.93[ASN][1000 genomes]
rs2906725	0.93[ASN][1000 genomes]
rs2906726	0.93[ASN][1000 genomes]
rs2906727	0.93[ASN][1000 genomes]
rs2906728	0.93[ASN][1000 genomes]
rs2906729	0.93[ASN][1000 genomes]
rs2906730	0.93[ASN][1000 genomes]
rs2906731	0.93[ASN][1000 genomes]
rs2906736	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906739	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949324	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949325	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949329	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949332	0.93[ASN][1000 genomes]
rs2949333	0.93[ASN][1000 genomes]
rs2949334	0.93[ASN][1000 genomes]
rs2949335	0.93[ASN][1000 genomes]
rs2949336	0.93[ASN][1000 genomes]
rs2949337	0.93[ASN][1000 genomes]
rs2970475	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970476	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970481	0.93[ASN][1000 genomes]
rs2970484	0.93[ASN][1000 genomes]
rs2970485	0.93[ASN][1000 genomes]
rs2970486	0.93[ASN][1000 genomes]
rs2970487	0.93[ASN][1000 genomes]
rs2970488	0.93[ASN][1000 genomes]
rs2970490	0.93[ASN][1000 genomes]
rs2970491	0.93[ASN][1000 genomes]
rs2970492	0.93[ASN][1000 genomes]
rs4354243	0.80[ASN][1000 genomes]
rs56024574	0.80[ASN][1000 genomes]
rs56257366	0.80[ASN][1000 genomes]
rs57249325	0.97[EUR][1000 genomes]
rs57730474	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975182	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400071	0.93[ASN][1000 genomes]
rs9691113	0.89[ASN][1000 genomes]
rs9691915	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101418400-101427200	Weak transcription	Right Atrium	heart
2	chr7:101420000-101436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:101421000-101426400	Weak transcription	Fetal Brain Female	brain
4	chr7:101422000-101426400	Weak transcription	Fetal Brain Male	brain
5	chr7:101423000-101427600	Weak transcription	HSMM	muscle
6	chr7:101423800-101424000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:101423800-101424000	Enhancers	Spleen	Spleen

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