Variant report

Variant	rs2970481
Chromosome Location	chr7:101407637-101407638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228981	0.96[ASN][1000 genomes]
rs10247290	0.96[ASN][1000 genomes]
rs10258318	0.96[ASN][1000 genomes]
rs11975225	0.81[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11977362	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11977381	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11984246	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17135758	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28416662	0.96[ASN][1000 genomes]
rs28419515	1.00[ASN][1000 genomes]
rs2906725	1.00[ASN][1000 genomes]
rs2906726	1.00[ASN][1000 genomes]
rs2906727	1.00[ASN][1000 genomes]
rs2906728	1.00[ASN][1000 genomes]
rs2906729	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2906730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906731	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906736	0.96[ASN][1000 genomes]
rs2906737	0.89[ASN][1000 genomes]
rs2906738	0.93[ASN][1000 genomes]
rs2906739	0.93[ASN][1000 genomes]
rs2949324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2949325	0.93[ASN][1000 genomes]
rs2949326	0.93[ASN][1000 genomes]
rs2949327	0.93[ASN][1000 genomes]
rs2949329	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2949332	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949333	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949334	1.00[ASN][1000 genomes]
rs2949335	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2949336	1.00[ASN][1000 genomes]
rs2949337	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2970475	0.93[ASN][1000 genomes]
rs2970476	0.93[ASN][1000 genomes]
rs2970484	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970485	1.00[ASN][1000 genomes]
rs2970486	1.00[ASN][1000 genomes]
rs2970487	1.00[ASN][1000 genomes]
rs2970488	1.00[ASN][1000 genomes]
rs2970490	1.00[ASN][1000 genomes]
rs2970491	1.00[ASN][1000 genomes]
rs2970492	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4354243	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs56024574	0.87[ASN][1000 genomes]
rs56257366	0.87[ASN][1000 genomes]
rs57730474	0.93[ASN][1000 genomes]
rs6975182	0.85[ASN][1000 genomes]
rs73400071	1.00[ASN][1000 genomes]
rs9691113	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9691915	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101407200-101407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:101407200-101407800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:101407200-101408000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:101407200-101408000	Enhancers	Brain Germinal Matrix	brain
5	chr7:101407400-101407800	Enhancers	Fetal Brain Female	brain
6	chr7:101407400-101408000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:101407400-101408000	Enhancers	Fetal Brain Male	brain
8	chr7:101407600-101408200	Enhancers	Lung	lung

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