Variant report

Variant	rs2124297
Chromosome Location	chr18:9661222-9661223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3322	1.00[CHD][hapmap]
rs650464	1.00[CHD][hapmap]
rs67344754	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7227801	1.00[CHD][hapmap]
rs7245045	1.00[CHD][hapmap]
rs8098931	1.00[CHD][hapmap]
rs9949213	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2124297	CHMP1B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9639200-9663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9653600-9662600	Weak transcription	Pancreas	Pancrea
3	chr18:9653600-9663200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9653600-9665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:9653800-9663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:9655000-9671800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:9659600-9663400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9659600-9671200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9659600-9672800	Weak transcription	Placenta	Placenta
10	chr18:9659800-9670800	Weak transcription	NHEK	skin
11	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9660000-9670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:9660200-9663400	Weak transcription	HMEC	breast
14	chr18:9661000-9661600	Weak transcription	Lung	lung
15	chr18:9661200-9662200	Enhancers	A549	lung

Quick Search:

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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