Variant report

Variant	rs10280228
Chromosome Location	chr7:47886707-47886708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10254483	0.85[CHB][hapmap]
rs1551275	0.89[YRI][hapmap]
rs6944477	0.86[CHB][hapmap]
rs6960513	0.85[YRI][hapmap]
rs6975745	0.88[YRI][hapmap]
rs7786516	0.86[CHB][hapmap]
rs9639016	0.89[YRI][hapmap]
rs9639987	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats 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 target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10280228	HUS1	cis	parietal	SCAN
rs10280228	GRB10	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:47884400-47887200	Enhancers	HUVEC	blood vessel
3	chr7:47884800-47887000	Enhancers	HSMM	muscle
4	chr7:47885400-47886800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:47885400-47887000	Enhancers	NHLF	lung
6	chr7:47885400-47887200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:47885600-47886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:47885800-47887000	Enhancers	NH-A	brain
9	chr7:47886000-47886800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:47886000-47886800	Enhancers	Aorta	Aorta
11	chr7:47886000-47887000	Enhancers	Lung	lung
12	chr7:47886200-47886800	Weak transcription	Right Atrium	heart
13	chr7:47886200-47886800	Enhancers	Right Ventricle	heart
14	chr7:47886200-47911000	Weak transcription	Psoas Muscle	Psoas
15	chr7:47886400-47886800	Enhancers	Fetal Heart	heart
16	chr7:47886400-47887000	Enhancers	A549	lung
17	chr7:47886400-47887000	Enhancers	Hela-S3	cervix
18	chr7:47886400-47892000	Weak transcription	Left Ventricle	heart
19	chr7:47886400-47905600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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