Variant report

Variant	rs56849426
Chromosome Location	chr15:55599371-55599372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16976260	0.82[AFR][1000 genomes]
rs28407079	1.00[AMR][1000 genomes]
rs28417106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544417	0.91[AFR][1000 genomes]
rs28659952	0.82[AFR][1000 genomes]
rs55741428	0.85[AFR][1000 genomes]
rs55904532	1.00[AMR][1000 genomes]
rs56815391	0.90[AFR][1000 genomes]
rs58851760	1.00[AMR][1000 genomes]
rs59652532	1.00[AMR][1000 genomes]
rs59887243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60146363	1.00[AMR][1000 genomes]
rs61019518	1.00[AMR][1000 genomes]
rs61044972	0.85[AMR][1000 genomes]
rs61176773	0.90[AFR][1000 genomes]
rs7165133	0.85[AFR][1000 genomes]
rs7177224	1.00[AMR][1000 genomes]
rs73406933	1.00[AMR][1000 genomes]
rs73406996	1.00[AMR][1000 genomes]
rs73408819	1.00[AMR][1000 genomes]
rs73408848	1.00[AMR][1000 genomes]
rs73408869	1.00[AMR][1000 genomes]
rs73413697	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73415503	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415532	0.82[AFR][1000 genomes]
rs74015565	0.85[AFR][1000 genomes]
rs74015569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55582600-55601400	Weak transcription	Lung	lung
2	chr15:55583200-55603000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:55583200-55603400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:55583200-55604400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:55583200-55610400	Weak transcription	Pancreas	Pancrea
6	chr15:55583400-55604400	Weak transcription	A549	lung
7	chr15:55590000-55604600	Weak transcription	K562	blood
8	chr15:55591800-55603600	Weak transcription	Ovary	ovary
9	chr15:55592600-55602000	Weak transcription	Spleen	Spleen
10	chr15:55593400-55603800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:55593800-55604800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:55593800-55605200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:55594400-55599400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:55594400-55603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:55594400-55604800	Weak transcription	Brain Substantia Nigra	brain
16	chr15:55594600-55602400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:55594800-55603200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:55594800-55603600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:55594800-55603600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:55594800-55603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:55594800-55604000	Weak transcription	Right Ventricle	heart
22	chr15:55595000-55602600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:55595000-55603200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:55595000-55603200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:55595000-55603400	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:55595000-55603600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:55595200-55603000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:55595400-55603800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:55595400-55604800	Weak transcription	HSMM	muscle
30	chr15:55595600-55603200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:55595600-55603600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr15:55595800-55603000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:55596200-55603000	Weak transcription	Liver	Liver
34	chr15:55596400-55602000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:55596600-55604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr15:55596800-55599800	ZNF genes & repeats	Fetal Brain Female	brain
37	chr15:55596800-55600000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:55596800-55600200	Strong transcription	Primary B cells from cord blood	blood
39	chr15:55596800-55603200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:55596800-55603200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:55597000-55599400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:55597000-55599600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:55597000-55599800	Strong transcription	Adipose Nuclei	Adipose
44	chr15:55597000-55599800	Strong transcription	Fetal Lung	lung
45	chr15:55597000-55600600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:55597000-55603000	Weak transcription	Placenta	Placenta
47	chr15:55597000-55604000	Weak transcription	Colonic Mucosa	Colon
48	chr15:55597000-55604400	Weak transcription	GM12878-XiMat	blood
49	chr15:55597000-55606400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:55597000-55610600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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