Variant report

Variant	rs7229960
Chromosome Location	chr18:8844406-8844407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502382	1.00[EUR][1000 genomes]
rs11081410	1.00[CHB][hapmap]
rs12956170	1.00[CHB][hapmap]
rs12956773	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs12957034	1.00[CHB][hapmap]
rs12962890	0.89[CHB][hapmap]
rs1564484	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2170297	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2242273	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs4798694	0.84[EUR][1000 genomes]
rs595802	0.90[CHB][hapmap]
rs7233770	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7240816	1.00[CHB][hapmap]

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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7229960	LOC285733	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8839600-8844600	Weak transcription	Right Ventricle	heart
2	chr18:8839600-8844800	Weak transcription	Fetal Brain Male	brain
3	chr18:8839600-8845000	Weak transcription	Fetal Brain Female	brain
4	chr18:8841200-8845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:8841800-8845400	Enhancers	NHEK	skin
6	chr18:8841800-8847200	Weak transcription	Right Atrium	heart
7	chr18:8842000-8845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:8842400-8847000	Weak transcription	NH-A	brain
9	chr18:8842400-8847200	Weak transcription	Osteobl	bone
10	chr18:8842600-8844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:8843200-8846600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:8843200-8847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:8843200-8849800	Weak transcription	NHLF	lung
14	chr18:8843400-8844600	Weak transcription	HMEC	breast
15	chr18:8843400-8845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:8844000-8846600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:8844200-8845200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:8844200-8845200	Enhancers	Left Ventricle	heart
19	chr18:8844400-8845200	Active TSS	Pancreatic Islets	Pancreatic Islet

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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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