Variant report

Variant	rs11997965
Chromosome Location	chr8:58378246-58378247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10957001	0.98[ASN][1000 genomes]
rs2122713	0.98[ASN][1000 genomes]
rs2325743	0.98[ASN][1000 genomes]
rs55706599	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277142	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58175170	0.98[ASN][1000 genomes]
rs58599340	0.87[ASN][1000 genomes]
rs59815872	0.98[ASN][1000 genomes]
rs60375761	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60656755	0.98[ASN][1000 genomes]
rs60890345	0.98[ASN][1000 genomes]
rs61467758	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62512281	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62512282	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62512283	0.92[ASN][1000 genomes]
rs62514811	0.98[ASN][1000 genomes]
rs7002828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003001	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825862	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829207	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1029189	chr8:58336604-58409288	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv6208	chr8:58345211-58389888	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11997965	RLN1	trans	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58375800-58378400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:58376200-58381200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:58376600-58378400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:58377000-58378400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:58377000-58379600	Weak transcription	Small Intestine	intestine
6	chr8:58377800-58381400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:58378000-58379400	Enhancers	Brain Germinal Matrix	brain
8	chr8:58378200-58379400	Enhancers	Rectal Mucosa Donor 31	rectum

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