Variant report

Variant	rs4522329
Chromosome Location	chr14:25513710-25513711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10133686	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626133	0.91[AFR][1000 genomes]
rs11627702	0.88[AFR][1000 genomes]
rs17109515	0.94[EUR][1000 genomes]
rs17109537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109547	0.88[EUR][1000 genomes]
rs17257780	0.93[AFR][1000 genomes]
rs1952491	0.88[EUR][1000 genomes]
rs1952494	0.87[AFR][1000 genomes]
rs1952499	0.86[EUR][1000 genomes]
rs1958381	0.91[EUR][1000 genomes]
rs1958383	0.91[EUR][1000 genomes]
rs2003997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2094659	0.88[EUR][1000 genomes]
rs2225269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2332464	0.91[AFR][1000 genomes]
rs35106416	0.84[EUR][1000 genomes]
rs57426267	0.84[EUR][1000 genomes]
rs57614343	0.84[EUR][1000 genomes]
rs58590969	0.88[EUR][1000 genomes]
rs6574172	0.86[EUR][1000 genomes]
rs7147345	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149869	0.85[ASN][1000 genomes]
rs7151656	0.87[AFR][1000 genomes]
rs7152812	0.88[EUR][1000 genomes]
rs7153837	0.84[EUR][1000 genomes]
rs7154613	0.84[EUR][1000 genomes]
rs8004566	0.84[EUR][1000 genomes]
rs8008618	0.84[EUR][1000 genomes]
rs8009099	0.84[EUR][1000 genomes]
rs873103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs913684	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:46 , 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	chr14:25510800-25514200	Enhancers	Brain Hippocampus Middle	brain
6	chr14:25510800-25514400	Enhancers	Brain Substantia Nigra	brain
7	chr14:25511000-25513800	Enhancers	Small Intestine	intestine
8	chr14:25511000-25514200	Genic enhancers	Fetal Lung	lung
9	chr14:25511000-25517400	Weak transcription	HSMMtube	muscle
10	chr14:25511200-25514000	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:25511800-25515600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:25511800-25515800	Weak transcription	Gastric	stomach
13	chr14:25511800-25517400	Weak transcription	Fetal Brain Male	brain
14	chr14:25512000-25515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:25512000-25515800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:25512000-25517000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:25512200-25515200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:25512200-25515800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:25512200-25517200	Weak transcription	Adipose Nuclei	Adipose
20	chr14:25512200-25517200	Weak transcription	Stomach Mucosa	stomach
21	chr14:25512400-25515600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:25512400-25516000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:25512400-25516800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:25512400-25517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:25512400-25517400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:25512600-25515600	Weak transcription	HepG2	liver
27	chr14:25512600-25515800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:25512600-25517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:25512800-25514000	Strong transcription	Fetal Intestine Small	intestine
30	chr14:25512800-25514200	Enhancers	HSMM	muscle
31	chr14:25513000-25514000	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:25513000-25515200	Weak transcription	Fetal Heart	heart
33	chr14:25513000-25516800	Weak transcription	NHLF	lung
34	chr14:25513000-25517200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:25513000-25517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:25513200-25513800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:25513200-25513800	Enhancers	Right Atrium	heart
38	chr14:25513400-25513800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:25513600-25513800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr14:25513600-25513800	Enhancers	Lung	lung
41	chr14:25513600-25513800	Enhancers	Pancreas	Pancrea
42	chr14:25513600-25513800	Enhancers	GM12878-XiMat	blood
43	chr14:25513600-25514000	Enhancers	Brain Angular Gyrus	brain
44	chr14:25513600-25514000	Enhancers	Placenta	Placenta
45	chr14:25513600-25514000	Genic enhancers	Left Ventricle	heart
46	chr14:25513600-25514000	Enhancers	Right Ventricle	heart

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