Variant report

Variant	rs56719500
Chromosome Location	chr15:44759001-44759002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12324129	1.00[AMR][1000 genomes]
rs12324372	1.00[AMR][1000 genomes]
rs36093509	1.00[AMR][1000 genomes]
rs57119348	1.00[AMR][1000 genomes]
rs57459307	1.00[AMR][1000 genomes]
rs58758000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59261301	1.00[AMR][1000 genomes]
rs7175978	1.00[AMR][1000 genomes]
rs7181037	1.00[AMR][1000 genomes]
rs8041448	1.00[AMR][1000 genomes]
rs9972380	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
9	esv3429957	chr15:44743709-44775347	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
3	chr15:44728800-44760600	Weak transcription	NHEK	skin
4	chr15:44733600-44760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:44733800-44779000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:44735600-44779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:44740400-44777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:44740600-44779000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:44740600-44779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:44740600-44795600	Weak transcription	Esophagus	oesophagus
11	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:44740800-44764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:44740800-44779000	Weak transcription	Aorta	Aorta
14	chr15:44740800-44779000	Weak transcription	Spleen	Spleen
15	chr15:44741000-44783800	Weak transcription	Right Ventricle	heart
16	chr15:44744800-44778400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:44749800-44759200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
19	chr15:44750200-44779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:44750400-44782800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:44750600-44759200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:44750600-44759600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:44750600-44760800	Weak transcription	NHDF-Ad	bronchial
25	chr15:44750600-44760800	Weak transcription	Osteobl	bone
26	chr15:44750600-44779000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:44750600-44781400	Weak transcription	A549	lung
28	chr15:44750800-44759600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:44751000-44761200	Weak transcription	Fetal Brain Male	brain
30	chr15:44751000-44795400	Weak transcription	Stomach Mucosa	stomach
31	chr15:44751800-44759400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:44752600-44761200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:44753200-44759600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:44754600-44760800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:44754600-44760800	Weak transcription	HMEC	breast
36	chr15:44754600-44779600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:44754600-44781400	Weak transcription	Brain Substantia Nigra	brain
38	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
39	chr15:44754800-44759200	Weak transcription	Brain Anterior Caudate	brain
40	chr15:44754800-44760800	Weak transcription	NHLF	lung
41	chr15:44754800-44766000	Weak transcription	Left Ventricle	heart
42	chr15:44754800-44772400	Weak transcription	Gastric	stomach
43	chr15:44754800-44779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:44755000-44762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:44755000-44776200	Weak transcription	HepG2	liver
46	chr15:44756200-44759200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:44756200-44760800	Weak transcription	HUVEC	blood vessel
48	chr15:44756600-44761000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:44756600-44768800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:44756800-44759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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