Variant report

Variant	rs17632342
Chromosome Location	chr15:54127290-54127291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17550677	1.00[AMR][1000 genomes]
rs17632415	1.00[EUR][1000 genomes]
rs17632630	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2061598	1.00[AMR][1000 genomes]
rs2126187	1.00[AMR][1000 genomes]
rs2248142	1.00[AMR][1000 genomes]
rs2248147	1.00[AMR][1000 genomes]
rs2616903	1.00[AMR][1000 genomes]
rs2616920	1.00[EUR][1000 genomes]
rs2616921	1.00[EUR][1000 genomes]
rs2616924	0.93[EUR][1000 genomes]
rs28394688	1.00[AMR][1000 genomes]
rs28444659	1.00[AMR][1000 genomes]
rs28680778	1.00[AMR][1000 genomes]
rs28687640	1.00[AMR][1000 genomes]
rs28783124	1.00[ASN][1000 genomes]
rs28798151	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28878232	1.00[AMR][1000 genomes]
rs57589658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920023	1.00[AMR][1000 genomes]
rs9920412	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	nsv983990	chr15:54127137-54128614	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54122400-54129800	Enhancers	Fetal Intestine Small	intestine
2	chr15:54123400-54127600	Weak transcription	Gastric	stomach
3	chr15:54123400-54130000	Enhancers	Fetal Intestine Large	intestine
4	chr15:54124000-54127600	Enhancers	Fetal Stomach	stomach
5	chr15:54124400-54127400	Enhancers	Colon Smooth Muscle	Colon
6	chr15:54124600-54127400	Enhancers	Stomach Smooth Muscle	stomach
7	chr15:54124600-54129400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:54125400-54128400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:54125600-54127400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:54125600-54128400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:54125600-54129000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:54125600-54129200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:54125600-54129600	Enhancers	Fetal Lung	lung
14	chr15:54125600-54130200	Enhancers	HepG2	liver
15	chr15:54125800-54127400	Weak transcription	Aorta	Aorta
16	chr15:54125800-54127400	Weak transcription	Stomach Mucosa	stomach
17	chr15:54125800-54129600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:54126000-54127600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:54126000-54128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:54126000-54128400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:54126000-54136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:54126200-54129000	Enhancers	A549	lung
23	chr15:54126800-54128800	Weak transcription	Fetal Kidney	kidney
24	chr15:54127000-54127400	Enhancers	NH-A	brain
25	chr15:54127200-54127600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:54127200-54127800	Enhancers	HMEC	breast
27	chr15:54127200-54129400	Weak transcription	Fetal Brain Male	brain

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