Variant report

Variant	rs17724250
Chromosome Location	chr5:58618234-58618235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036406	0.91[CEU][hapmap]
rs10055446	0.89[CEU][hapmap]
rs10060200	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10068836	0.81[CEU][hapmap]
rs10070436	0.81[CEU][hapmap]
rs10079396	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10079614	0.84[EUR][1000 genomes]
rs10079932	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13328160	0.81[CEU][hapmap]
rs13328175	0.90[CEU][hapmap]
rs13328226	0.81[CEU][hapmap]
rs13354210	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs17528473	0.81[CEU][hapmap]
rs17528634	0.91[CEU][hapmap]
rs17780213	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17780584	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17780740	0.91[CEU][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17780836	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17780860	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1824159	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2044419	0.84[EUR][1000 genomes]
rs2194210	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56183128	0.84[EUR][1000 genomes]
rs57516309	0.87[EUR][1000 genomes]
rs72765993	0.87[EUR][1000 genomes]
rs72767710	0.84[EUR][1000 genomes]
rs72767722	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292201	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2760953	chr5:58609468-58620440	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58612800-58627200	Weak transcription	Aorta	Aorta
2	chr5:58613600-58618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:58613600-58618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:58613600-58626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:58613600-58628600	Weak transcription	Gastric	stomach
6	chr5:58613800-58619800	Weak transcription	Psoas Muscle	Psoas
7	chr5:58613800-58622600	Weak transcription	Fetal Brain Female	brain
8	chr5:58614000-58624600	Weak transcription	Fetal Stomach	stomach
9	chr5:58614200-58618400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:58616200-58618800	Weak transcription	Fetal Brain Male	brain
11	chr5:58616200-58623000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:58616200-58624600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:58616800-58618800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:58616800-58619000	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:58616800-58619200	Enhancers	Fetal Kidney	kidney
16	chr5:58616800-58619200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:58616800-58621600	Enhancers	Fetal Heart	heart
18	chr5:58617000-58618600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:58617000-58618600	Enhancers	Right Atrium	heart
20	chr5:58617000-58618800	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:58617000-58618800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:58617000-58619200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:58617000-58620200	Enhancers	Colon Smooth Muscle	Colon
24	chr5:58617200-58622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:58617400-58618600	Enhancers	Fetal Lung	lung
26	chr5:58617400-58619200	Enhancers	Hela-S3	cervix
27	chr5:58617400-58620000	Enhancers	A549	lung
28	chr5:58617600-58624600	Weak transcription	Left Ventricle	heart
29	chr5:58617800-58618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:58618000-58618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:58618000-58618600	Enhancers	Stomach Mucosa	stomach
32	chr5:58618000-58618800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:58618000-58618800	Enhancers	Small Intestine	intestine
34	chr5:58618000-58619400	Enhancers	Fetal Intestine Large	intestine

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