Variant report

Variant	rs2368558
Chromosome Location	chr14:104230518-104230519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11160759	0.82[EUR][1000 genomes]
rs11160766	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11624184	0.82[EUR][1000 genomes]
rs11626377	0.82[EUR][1000 genomes]
rs11627258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11628332	0.82[EUR][1000 genomes]
rs11628481	0.82[EUR][1000 genomes]
rs11628787	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12433009	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12437066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588489	0.81[EUR][1000 genomes]
rs12878682	0.82[EUR][1000 genomes]
rs12878868	0.82[EUR][1000 genomes]
rs1547604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1955660	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2006281	0.84[AMR][1000 genomes]
rs2024667	0.81[EUR][1000 genomes]
rs2024669	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144079	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2144080	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295140	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295147	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2295148	0.82[AMR][1000 genomes]
rs2295151	0.83[AMR][1000 genomes]
rs2368559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906368	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6575997	0.81[EUR][1000 genomes]
rs6575998	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576003	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6576005	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67478160	0.84[ASN][1000 genomes]
rs7141928	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009868	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8014294	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018363	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876002	0.82[EUR][1000 genomes]
rs941473	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs941475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
2	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
5	chr14:104208800-104260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:104211800-104265000	Weak transcription	Hela-S3	cervix
8	chr14:104215000-104256800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:104215400-104230800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:104215400-104248600	Weak transcription	Aorta	Aorta
11	chr14:104215400-104250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:104215400-104263800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:104216000-104242600	Weak transcription	Colonic Mucosa	Colon
15	chr14:104216000-104267600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:104216200-104259000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:104216200-104264400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:104216200-104264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:104216200-104267800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:104216400-104240600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:104216600-104238600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:104216600-104254800	Weak transcription	Brain Anterior Caudate	brain
24	chr14:104216600-104257200	Weak transcription	HepG2	liver
25	chr14:104216800-104240800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:104216800-104243600	Weak transcription	Pancreas	Pancrea
27	chr14:104216800-104261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
29	chr14:104218800-104233800	Weak transcription	Gastric	stomach
30	chr14:104218800-104238400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:104218800-104243800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:104218800-104270200	Weak transcription	Ovary	ovary
33	chr14:104219600-104250000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:104220200-104239200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:104220400-104233800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:104220400-104241600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:104220600-104237000	Weak transcription	Primary T cells from cord blood	blood
38	chr14:104220600-104246400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:104221200-104234000	Weak transcription	Stomach Mucosa	stomach
40	chr14:104223000-104237000	Weak transcription	NHEK	skin
41	chr14:104223200-104254600	Weak transcription	HMEC	breast
42	chr14:104224000-104231600	Weak transcription	HUVEC	blood vessel
43	chr14:104225000-104232200	Weak transcription	Fetal Lung	lung
44	chr14:104227200-104231800	Weak transcription	Lung	lung
45	chr14:104227600-104236400	Weak transcription	Fetal Intestine Small	intestine
46	chr14:104227600-104241400	Weak transcription	Placenta	Placenta
47	chr14:104228000-104230600	Strong transcription	Left Ventricle	heart
48	chr14:104228600-104231400	Weak transcription	NHDF-Ad	bronchial
49	chr14:104228600-104232600	Weak transcription	Osteobl	bone
50	chr14:104228600-104238400	Weak transcription	Primary B cells from peripheral blood	blood

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