Variant report

Variant	rs72636716
Chromosome Location	chr18:9067295-9067296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10163969	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381712	0.86[AMR][1000 genomes]
rs1989451	0.85[ASN][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	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	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 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	chr18:9056600-9068000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:9061800-9068000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr18:9063800-9069200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:9064000-9068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:9064000-9068400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:9064000-9069200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr18:9065200-9068600	Enhancers	K562	blood
8	chr18:9065800-9067600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:9066000-9067400	Flanking Active TSS	GM12878-XiMat	blood
10	chr18:9066200-9077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:9066400-9067800	Weak transcription	HepG2	liver
12	chr18:9066600-9067400	ZNF genes & repeats	Liver	Liver
13	chr18:9066600-9069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:9066800-9069600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:9067000-9068000	Weak transcription	Placenta	Placenta
16	chr18:9067200-9068400	Weak transcription	Primary B cells from cord blood	blood
17	chr18:9067200-9068400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr18:9067200-9068400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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