Variant report

Variant	rs4240635
Chromosome Location	chr8:10086946-10086947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11249976	0.86[EUR][1000 genomes]
rs11249978	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12548393	0.86[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs13254507	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs13256234	0.85[CHD][hapmap]
rs13260425	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13278458	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4075950	0.82[JPT][hapmap]
rs4075951	0.82[JPT][hapmap]
rs4075952	0.82[JPT][hapmap]
rs4077722	0.82[ASN][1000 genomes]
rs4265190	0.84[ASN][1000 genomes]
rs4545101	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991385	0.86[TSI][hapmap]

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	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv890345	chr8:10068073-10093228	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890346	chr8:10075373-10103435	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4240635	FDFT1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
2	chr8:10060200-10103000	Weak transcription	Gastric	stomach
3	chr8:10073000-10089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:10078800-10102800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:10078800-10103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10079200-10102600	Weak transcription	Fetal Brain Female	brain
7	chr8:10079400-10089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:10085400-10087000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:10086000-10087800	Enhancers	HMEC	breast
10	chr8:10086200-10087000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:10086200-10087800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:10086800-10087600	Flanking Active TSS	NHEK	skin

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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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