Variant report

Variant	rs4730292
Chromosome Location	chr7:107809927-107809928
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs107588	0.81[CEU][hapmap]
rs107589	0.81[CEU][hapmap]
rs11767318	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2142325	0.81[CEU][hapmap]
rs2839850	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs371613	0.81[CEU][hapmap]
rs3819740	0.81[CEU][hapmap]
rs399849	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs401573	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs417455	0.81[CEU][hapmap]
rs422327	0.81[CEU][hapmap]
rs427909	0.81[CEU][hapmap]
rs439652	0.81[CEU][hapmap]
rs441534	0.81[CEU][hapmap]
rs448944	0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6970656	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1030222	chr7:107809927-107844916	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4730292	DOCK4	cis	parietal	SCAN
rs4730292	LAMB4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:107786800-107818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:107786800-107819000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107787000-107818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:107787600-107818800	Weak transcription	Brain Anterior Caudate	brain
7	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
8	chr7:107790400-107816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
10	chr7:107800200-107815200	Weak transcription	A549	lung
11	chr7:107805800-107818800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:107808200-107820000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:107808600-107818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:107808600-107818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:107809000-107810200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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