Variant report

Variant	rs2225269
Chromosome Location	chr14:25518201-25518202
allele	A/C
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]
rs10133686	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626133	0.87[AFR][1000 genomes]
rs11627702	0.84[AFR][1000 genomes]
rs17109515	0.90[EUR][1000 genomes]
rs17109537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17109547	0.91[EUR][1000 genomes]
rs17257780	0.89[AFR][1000 genomes]
rs1952491	0.83[EUR][1000 genomes]
rs1952494	0.91[AFR][1000 genomes]
rs1952499	0.82[EUR][1000 genomes]
rs1958381	0.93[EUR][1000 genomes]
rs1958383	0.93[EUR][1000 genomes]
rs2003997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2094659	0.83[EUR][1000 genomes]
rs2332464	0.87[AFR][1000 genomes]
rs4522329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58590969	0.83[EUR][1000 genomes]
rs6574172	0.88[EUR][1000 genomes]
rs7147345	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149869	0.94[ASN][1000 genomes]
rs7151656	0.91[AFR][1000 genomes]
rs7152812	0.83[EUR][1000 genomes]
rs873103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913684	0.93[EUR][1000 genomes];0.97[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25517000-25520000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:25517200-25519800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:25517200-25520000	Active TSS	Stomach Mucosa	stomach
4	chr14:25517200-25520200	Active TSS	NHLF	lung
5	chr14:25517200-25520400	Active TSS	Right Ventricle	heart
6	chr14:25517400-25518400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:25517400-25518400	Flanking Active TSS	Fetal Heart	heart
8	chr14:25517400-25518800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr14:25517400-25520000	Active TSS	Left Ventricle	heart
10	chr14:25517400-25520000	Active TSS	Right Atrium	heart
11	chr14:25517400-25520200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:25517600-25518400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr14:25517600-25518400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:25517600-25518400	Flanking Active TSS	NHEK	skin
15	chr14:25517600-25518600	Flanking Active TSS	NH-A	brain
16	chr14:25517600-25518800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:25517600-25518800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr14:25517600-25519200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr14:25517600-25519400	Active TSS	Lung	lung
20	chr14:25517600-25520000	Active TSS	Placenta	Placenta
21	chr14:25517600-25520000	Active TSS	Rectal Smooth Muscle	rectum
22	chr14:25517800-25518400	Active TSS	Colonic Mucosa	Colon
23	chr14:25517800-25518400	Active TSS	Fetal Intestine Small	intestine
24	chr14:25517800-25519000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:25517800-25519200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:25517800-25519600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:25517800-25519600	Active TSS	Brain Cingulate Gyrus	brain
28	chr14:25517800-25519600	Active TSS	Gastric	stomach
29	chr14:25517800-25519800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:25517800-25519800	Active TSS	Brain Anterior Caudate	brain
31	chr14:25517800-25519800	Active TSS	Brain Hippocampus Middle	brain
32	chr14:25517800-25519800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:25517800-25519800	Active TSS	Brain Substantia Nigra	brain
34	chr14:25517800-25519800	Active TSS	Colon Smooth Muscle	Colon
35	chr14:25517800-25519800	Active TSS	Pancreas	Pancrea
36	chr14:25517800-25519800	Active TSS	Stomach Smooth Muscle	stomach
37	chr14:25517800-25519800	Active TSS	HSMMtube	muscle
38	chr14:25517800-25520000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr14:25518000-25518400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:25518000-25518400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:25518000-25518400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr14:25518000-25518400	Flanking Bivalent TSS/Enh	Osteobl	bone
43	chr14:25518000-25518600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr14:25518000-25518600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:25518000-25518600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr14:25518000-25518600	Bivalent/Poised TSS	Fetal Lung	lung
47	chr14:25518000-25518800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr14:25518000-25519200	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr14:25518000-25519600	Active TSS	Small Intestine	intestine
50	chr14:25518000-25519800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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