Variant report

Variant	rs73432624
Chromosome Location	chr9:18378887-18378888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1340045	0.91[EUR][1000 genomes]
rs16936628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16936631	0.91[EUR][1000 genomes]
rs56348051	0.86[AFR][1000 genomes]
rs59057443	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73430998	0.91[EUR][1000 genomes]
rs73431002	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73432620	0.91[EUR][1000 genomes]
rs7847110	0.91[EUR][1000 genomes]

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	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18368400-18381800	Weak transcription	Aorta	Aorta
2	chr9:18377800-18379000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:18378000-18379600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:18378000-18380000	Enhancers	Osteobl	bone
5	chr9:18378600-18379800	Enhancers	Hela-S3	cervix
6	chr9:18378600-18379800	Enhancers	HMEC	breast
7	chr9:18378600-18380200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:18378600-18381000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:18378800-18379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:18378800-18379200	Enhancers	A549	lung
11	chr9:18378800-18379600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:18378800-18379800	Enhancers	HSMM	muscle
13	chr9:18378800-18379800	Enhancers	HUVEC	blood vessel
14	chr9:18378800-18380000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:18378800-18380000	Enhancers	NHEK	skin
16	chr9:18378800-18380200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:18378800-18380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:18378800-18380600	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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