Variant report

Variant	rs11981474
Chromosome Location	chr7:39306009-39306010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11973905	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11979297	0.91[ASN][1000 genomes]
rs12701709	0.81[CHB][hapmap]
rs3923295	0.82[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4318977	0.82[CHB][hapmap]
rs4358689	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4377848	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4629764	0.82[CHB][hapmap]
rs58852609	0.91[ASN][1000 genomes]
rs6951074	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6960580	1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6964993	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6968121	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73118070	0.82[ASN][1000 genomes]
rs73121820	0.82[ASN][1000 genomes]
rs73128410	0.91[ASN][1000 genomes]
rs73128427	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	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11981474	TUBA8	trans	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39293800-39310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:39301000-39310600	Weak transcription	Fetal Brain Male	brain
3	chr7:39304200-39310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:39304600-39306200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:39304800-39306200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:39304800-39306200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:39305200-39306200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:39305200-39306200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:39305200-39306200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:39305800-39306200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:39305800-39306200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:39306000-39306200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:39306000-39306600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:39306000-39311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:39306000-39311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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