Variant report

Variant	rs2007289
Chromosome Location	chr14:25515079-25515080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10483294	0.89[ASN][1000 genomes]
rs11623931	0.95[ASN][1000 genomes]
rs11628356	0.96[ASN][1000 genomes]
rs17185593	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17185677	0.88[ASN][1000 genomes]
rs17185684	0.88[ASN][1000 genomes]
rs17185691	0.88[ASN][1000 genomes]
rs17185705	0.89[ASN][1000 genomes]
rs17257808	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17257836	0.94[ASN][1000 genomes]
rs17257871	0.88[ASN][1000 genomes]
rs17257878	0.88[ASN][1000 genomes]
rs17257885	0.88[ASN][1000 genomes]
rs17257892	0.88[ASN][1000 genomes]
rs1952504	0.91[ASN][1000 genomes]
rs1958389	0.88[ASN][1000 genomes]
rs58640442	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60783613	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61254962	0.94[ASN][1000 genomes]
rs61502598	0.89[ASN][1000 genomes]
rs7148029	0.88[ASN][1000 genomes]
rs7159074	0.93[ASN][1000 genomes]
rs74039209	0.84[ASN][1000 genomes]
rs9743589	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv527684	chr14:25514126-25518326	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
2	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:25503800-25515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:25510000-25515800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:25511000-25517400	Weak transcription	HSMMtube	muscle
6	chr14:25511800-25515600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:25511800-25515800	Weak transcription	Gastric	stomach
8	chr14:25511800-25517400	Weak transcription	Fetal Brain Male	brain
9	chr14:25512000-25515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:25512000-25515800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:25512000-25517000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:25512200-25515200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:25512200-25515800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:25512200-25517200	Weak transcription	Adipose Nuclei	Adipose
15	chr14:25512200-25517200	Weak transcription	Stomach Mucosa	stomach
16	chr14:25512400-25515600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:25512400-25516000	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:25512400-25516800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:25512400-25517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:25512400-25517400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:25512600-25515600	Weak transcription	HepG2	liver
22	chr14:25512600-25515800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:25512600-25517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:25513000-25515200	Weak transcription	Fetal Heart	heart
25	chr14:25513000-25516800	Weak transcription	NHLF	lung
26	chr14:25513000-25517200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:25513000-25517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:25513800-25517200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:25513800-25517400	Weak transcription	Right Atrium	heart
30	chr14:25514000-25515400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:25514000-25515600	Weak transcription	Placenta	Placenta
32	chr14:25514000-25515600	Weak transcription	Right Ventricle	heart
33	chr14:25514000-25515800	Weak transcription	Brain Angular Gyrus	brain
34	chr14:25514000-25515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:25514000-25515800	Weak transcription	Fetal Intestine Small	intestine
36	chr14:25514000-25515800	Weak transcription	Left Ventricle	heart
37	chr14:25514000-25515800	Weak transcription	Pancreas	Pancrea
38	chr14:25514000-25517600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:25514200-25515200	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:25514200-25515600	Weak transcription	Fetal Lung	lung
41	chr14:25514200-25515600	Weak transcription	HSMM	muscle
42	chr14:25514400-25515800	Weak transcription	Brain Substantia Nigra	brain
43	chr14:25514800-25515600	Weak transcription	Brain Anterior Caudate	brain

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