Variant report

Variant	rs16936603
Chromosome Location	chr9:18333039-18333040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10119710	0.84[AFR][1000 genomes]
rs10124318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10125689	0.87[AFR][1000 genomes]
rs10810956	0.88[AFR][1000 genomes]
rs10810957	0.88[AFR][1000 genomes]
rs10963577	0.87[AFR][1000 genomes]
rs10963578	0.87[AFR][1000 genomes]
rs12339435	0.83[AFR][1000 genomes]
rs12349149	0.82[AFR][1000 genomes]
rs1329724	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1340047	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2226017	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28513111	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35016784	0.81[AFR][1000 genomes]
rs4354407	0.87[AFR][1000 genomes]
rs4382567	0.91[AFR][1000 genomes]
rs4439225	0.81[AMR][1000 genomes]
rs4526458	0.83[AFR][1000 genomes]
rs4606157	0.80[AFR][1000 genomes]
rs4961461	0.87[AFR][1000 genomes]
rs4961634	0.90[AFR][1000 genomes]
rs4961639	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4961640	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4961641	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7020284	0.90[CEU][hapmap]
rs7023268	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7024252	0.90[CEU][hapmap]
rs9298791	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv430001	chr9:18301116-18346392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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
9	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16936603	CDKN2B	cis	cerebellum	SCAN
rs16936603	IFNA13	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18325600-18334200	Weak transcription	Fetal Heart	heart
2	chr9:18326000-18333200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:18327800-18333400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:18327800-18333800	Weak transcription	NHDF-Ad	bronchial
5	chr9:18331000-18334400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:18331600-18333800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:18331600-18336000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:18331800-18333800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:18331800-18337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:18332000-18334000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:18332000-18334400	Enhancers	HUVEC	blood vessel
12	chr9:18332200-18333800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:18332200-18337800	Weak transcription	Osteobl	bone
14	chr9:18332400-18333800	Weak transcription	Fetal Kidney	kidney
15	chr9:18332400-18334000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:18332600-18335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:18332600-18337000	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:18332600-18337600	Weak transcription	NH-A	brain
19	chr9:18332800-18334000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:18332800-18334200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:18333000-18333800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:18333000-18334000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:18333000-18334400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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