Variant report

Variant	rs9953985
Chromosome Location	chr18:28880565-28880566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10438930	0.81[CEU][hapmap]
rs11081687	0.90[JPT][hapmap]
rs11876962	0.82[EUR][1000 genomes]
rs2114270	0.80[ASN][1000 genomes]
rs2912334	0.81[ASN][1000 genomes]
rs6506910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7244719	0.83[EUR][1000 genomes]
rs8092044	0.80[EUR][1000 genomes]
rs9952617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9953981	0.85[EUR][1000 genomes]

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	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3422577	chr18:28862003-28881811	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28877600-28880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:28877600-28880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28877600-28880800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28877800-28880600	Weak transcription	NHEK	skin
6	chr18:28879800-28881000	Weak transcription	HUVEC	blood vessel
7	chr18:28880000-28882400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr18:28880200-28880600	Weak transcription	Placenta	Placenta
9	chr18:28880200-28881200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:28880200-28882000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:28880200-28882400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:28880400-28881200	Enhancers	Stomach Mucosa	stomach
13	chr18:28880400-28882000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:28880400-28882000	Enhancers	Fetal Muscle Leg	muscle
15	chr18:28880400-28882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:28880400-28882600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr18:28880400-28884600	Enhancers	HMEC	breast

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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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