Variant report

Variant	rs2415883
Chromosome Location	chr14:45640557-45640558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10129236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142759	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143508	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143794	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149578	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10151937	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10220594	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157433	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11845507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252957	0.82[EUR][1000 genomes]
rs1252959	0.82[EUR][1000 genomes]
rs1252960	0.82[EUR][1000 genomes]
rs1252963	0.82[EUR][1000 genomes]
rs1252966	0.82[EUR][1000 genomes]
rs1266209	0.82[EUR][1000 genomes]
rs1268576	0.82[EUR][1000 genomes]
rs1367580	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431050	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17115860	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115912	0.84[EUR][1000 genomes]
rs1969713	0.81[EUR][1000 genomes]
rs2750119	0.82[EUR][1000 genomes]
rs28421670	0.93[EUR][1000 genomes]
rs28531936	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736772	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4900664	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906564	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4906566	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906568	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607457	0.82[EUR][1000 genomes]
rs58790242	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6572296	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141145	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147246	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148613	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160373	0.82[EUR][1000 genomes]
rs73350248	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8020533	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911041	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1795403	chr14:45622265-45650813	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:45607000-45660000	Weak transcription	Ovary	ovary
4	chr14:45607400-45650200	Weak transcription	NH-A	brain
5	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:45608000-45683000	Weak transcription	K562	blood
8	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
9	chr14:45610200-45667400	Weak transcription	HMEC	breast
10	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:45614800-45640600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:45614800-45666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:45619000-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:45623200-45647200	Weak transcription	Fetal Heart	heart
15	chr14:45629800-45680800	Weak transcription	HepG2	liver
16	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
17	chr14:45631000-45675000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:45631400-45642600	Weak transcription	Thymus	Thymus
19	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:45632600-45658000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:45633800-45646600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:45633800-45648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:45633800-45658200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
26	chr14:45634400-45657600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:45635000-45645800	Weak transcription	Osteobl	bone
28	chr14:45635200-45654200	Weak transcription	GM12878-XiMat	blood
29	chr14:45635200-45678400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:45635200-45678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:45635400-45658000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:45635600-45641200	Weak transcription	Right Ventricle	heart
33	chr14:45635600-45655400	Weak transcription	Primary T cells from cord blood	blood
34	chr14:45636000-45669800	Weak transcription	Fetal Stomach	stomach
35	chr14:45636000-45675400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:45636400-45673800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:45636400-45675600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:45636600-45644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:45636600-45645000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:45636600-45657000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:45636600-45667600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:45636600-45669800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:45636600-45675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:45636600-45682800	Weak transcription	Fetal Lung	lung
45	chr14:45636800-45657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:45636800-45658000	Weak transcription	Adipose Nuclei	Adipose
47	chr14:45636800-45658200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:45636800-45670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:45636800-45671400	Weak transcription	Placenta	Placenta
50	chr14:45637000-45644800	Weak transcription	Primary B cells from cord blood	blood

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