Variant report

Variant	rs11623931
Chromosome Location	chr14:25516250-25516251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483294	0.89[ASN][1000 genomes]
rs11626436	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11628356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17185593	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	0.95[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	0.92[ASN][1000 genomes]
rs1958389	0.88[ASN][1000 genomes]
rs2007289	0.95[ASN][1000 genomes]
rs58640442	0.87[ASN][1000 genomes]
rs60783613	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	0.85[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
2	chr14:25511000-25517400	Weak transcription	HSMMtube	muscle
3	chr14:25511800-25517400	Weak transcription	Fetal Brain Male	brain
4	chr14:25512000-25517000	Weak transcription	Fetal Intestine Large	intestine
5	chr14:25512200-25517200	Weak transcription	Adipose Nuclei	Adipose
6	chr14:25512200-25517200	Weak transcription	Stomach Mucosa	stomach
7	chr14:25512400-25516800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:25512400-25517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:25512400-25517400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:25512600-25517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:25513000-25516800	Weak transcription	NHLF	lung
12	chr14:25513000-25517200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:25513000-25517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:25513800-25517200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:25513800-25517400	Weak transcription	Right Atrium	heart
16	chr14:25514000-25517600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:25515200-25517400	Enhancers	Fetal Heart	heart
18	chr14:25515400-25517600	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:25515600-25517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:25515600-25517400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:25515600-25517600	Enhancers	Brain Anterior Caudate	brain
22	chr14:25515600-25517800	Enhancers	HepG2	liver
23	chr14:25515800-25516400	Enhancers	Left Ventricle	heart
24	chr14:25515800-25517000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:25515800-25517400	Enhancers	Brain Substantia Nigra	brain
26	chr14:25515800-25517400	Enhancers	Pancreas	Pancrea
27	chr14:25515800-25517400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:25515800-25517600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:25515800-25517600	Enhancers	Brain Angular Gyrus	brain
30	chr14:25515800-25517800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:25515800-25518200	Enhancers	K562	blood
32	chr14:25516000-25516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:25516000-25517600	Enhancers	Colon Smooth Muscle	Colon
34	chr14:25516000-25518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:25516200-25516800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:25516200-25516800	Enhancers	Brain Hippocampus Middle	brain
37	chr14:25516200-25517000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:25516200-25517000	Weak transcription	Fetal Intestine Small	intestine
39	chr14:25516200-25517000	Weak transcription	Placenta	Placenta
40	chr14:25516200-25517000	Active TSS	Right Ventricle	heart
41	chr14:25516200-25517200	Weak transcription	HSMM	muscle
42	chr14:25516200-25517400	Enhancers	Fetal Lung	lung
43	chr14:25516200-25517600	Weak transcription	Gastric	stomach
44	chr14:25516200-25517800	Weak transcription	Esophagus	oesophagus

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