Variant report

Variant	rs7165549
Chromosome Location	chr15:54129073-54129074
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:23)

rs_ID	r²[population]
rs1038055	0.80[CEU][hapmap]
rs12443269	0.88[EUR][1000 genomes]
rs1382234	0.86[EUR][1000 genomes]
rs1478214	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1478215	0.88[EUR][1000 genomes]
rs1478216	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17198173	0.86[EUR][1000 genomes]
rs17198194	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17550754	0.88[EUR][1000 genomes]
rs17793577	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs1871119	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1904112	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs4776182	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs527957	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60395387	0.81[EUR][1000 genomes]
rs62006032	0.81[EUR][1000 genomes]
rs62006033	0.81[EUR][1000 genomes]
rs62006039	0.85[EUR][1000 genomes]
rs62006040	0.86[EUR][1000 genomes]
rs62006041	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8040564	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8040820	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs872959	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv9267	chr15:53821005-54132612	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv949528	chr15:54041154-54281981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv457147	chr15:54080810-54156980	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv569452	chr15:54080810-54156980	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7165549	MRPL35	trans	cerebellum	SCAN
rs7165549	UNC13C	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54122400-54129800	Enhancers	Fetal Intestine Small	intestine
2	chr15:54123400-54130000	Enhancers	Fetal Intestine Large	intestine
3	chr15:54124600-54129400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:54125600-54129200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:54125600-54129600	Enhancers	Fetal Lung	lung
6	chr15:54125600-54130200	Enhancers	HepG2	liver
7	chr15:54125800-54129600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:54126000-54136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:54127200-54129400	Weak transcription	Fetal Brain Male	brain
10	chr15:54127400-54129600	Enhancers	Aorta	Aorta
11	chr15:54127600-54129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:54127600-54129400	Weak transcription	Fetal Stomach	stomach
13	chr15:54127600-54129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:54127800-54135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:54128200-54135400	Weak transcription	Gastric	stomach
16	chr15:54128400-54129400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr15:54128400-54129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr15:54128400-54129800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:54128400-54130000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:54128800-54129800	Enhancers	NH-A	brain
21	chr15:54128800-54130000	Enhancers	Fetal Kidney	kidney
22	chr15:54129000-54129200	Flanking Active TSS	A549	lung
23	chr15:54129000-54129600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr15:54129000-54129800	Enhancers	Duodenum Mucosa	Duodenum
25	chr15:54129000-54130000	Enhancers	Stomach Mucosa	stomach

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