Variant report

Variant	rs17200624
Chromosome Location	chr14:25284892-25284893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1052484	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11550670	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12894282	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35131265	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35990769	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71405871	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035284	chr14:25267840-25285191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv542003	chr14:25267840-25285191	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv456169	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv564071	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25275200-25285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:25275400-25285000	Weak transcription	Lung	lung
3	chr14:25276200-25285400	Weak transcription	Adipose Nuclei	Adipose
4	chr14:25276200-25286600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:25277800-25286600	Weak transcription	Placenta	Placenta
6	chr14:25278000-25286400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:25278600-25287600	Enhancers	Fetal Intestine Large	intestine
8	chr14:25279800-25285600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:25279800-25286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:25279800-25286800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:25279800-25287400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:25280000-25285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:25280000-25285400	Weak transcription	Brain Angular Gyrus	brain
14	chr14:25280000-25285400	Weak transcription	HSMMtube	muscle
15	chr14:25280000-25285600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:25280000-25285600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:25280000-25286200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:25280600-25286400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:25280600-25286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:25280800-25285800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:25280800-25289200	Weak transcription	Fetal Stomach	stomach
22	chr14:25281800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:25282800-25285000	Genic enhancers	HepG2	liver
24	chr14:25282800-25285600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:25283000-25288600	Enhancers	Left Ventricle	heart
26	chr14:25283200-25285600	Enhancers	Right Ventricle	heart
27	chr14:25283400-25285600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:25283600-25285200	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:25283600-25285800	Enhancers	Liver	Liver
30	chr14:25283800-25285600	Genic enhancers	Fetal Intestine Small	intestine
31	chr14:25283800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:25284200-25285600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:25284600-25286200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr14:25284600-25288000	Enhancers	Stomach Mucosa	stomach
35	chr14:25284600-25289200	Enhancers	Pancreas	Pancrea
36	chr14:25284800-25285200	Flanking Active TSS	Fetal Heart	heart
37	chr14:25284800-25285200	Strong transcription	HSMM	muscle
38	chr14:25284800-25285400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:25284800-25285600	Enhancers	Colonic Mucosa	Colon
40	chr14:25284800-25285600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr14:25284800-25285600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:25284800-25285800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:25284800-25286000	Enhancers	Fetal Kidney	kidney
44	chr14:25284800-25286000	Enhancers	Gastric	stomach
45	chr14:25284800-25286400	Genic enhancers	Fetal Muscle Leg	muscle
46	chr14:25284800-25287400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr14:25284800-25288400	Enhancers	Right Atrium	heart
48	chr14:25284800-25288600	Genic enhancers	Fetal Lung	lung
49	chr14:25284800-25288800	Strong transcription	Placenta Amnion	Placenta Amnion

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