Variant report

Variant	rs2289411
Chromosome Location	chr15:74275788-74275789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74269606..74273109-chr15:74273492..74276918,5	K562	blood:
2	chr15:74270540..74273109-chr15:74273687..74276918,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12324082	0.93[ASN][1000 genomes]
rs12324916	0.93[ASN][1000 genomes]
rs16958591	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984525	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984526	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289412	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301272	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301273	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415187	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491832	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501585	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642322	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784560	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495728	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023773	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038882	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039455	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040503	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042532	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920026	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74265800-74275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:74267200-74277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:74272800-74276000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr15:74272800-74281000	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:74273000-74275800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:74273000-74276000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:74273200-74275800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:74273200-74280000	Enhancers	Left Ventricle	heart
10	chr15:74273800-74275800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:74273800-74275800	Enhancers	Brain Cingulate Gyrus	brain
12	chr15:74273800-74275800	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:74273800-74275800	Enhancers	Placenta	Placenta
14	chr15:74273800-74275800	Enhancers	Spleen	Spleen
15	chr15:74273800-74276000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr15:74273800-74276000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr15:74273800-74276000	Enhancers	Lung	lung
18	chr15:74273800-74276000	Enhancers	NHLF	lung
19	chr15:74273800-74276400	Enhancers	HUVEC	blood vessel
20	chr15:74273800-74276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:74273800-74278000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:74273800-74278600	Enhancers	Primary B cells from peripheral blood	blood
23	chr15:74273800-74278600	Enhancers	NH-A	brain
24	chr15:74273800-74279600	Enhancers	Right Atrium	heart
25	chr15:74273800-74280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:74273800-74283600	Enhancers	HMEC	breast
27	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
28	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:74274000-74275800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:74274000-74275800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:74274000-74275800	Enhancers	Brain Anterior Caudate	brain
32	chr15:74274000-74275800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr15:74274000-74275800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr15:74274000-74276000	Enhancers	Duodenum Mucosa	Duodenum
35	chr15:74274000-74276000	Enhancers	Right Ventricle	heart
36	chr15:74274000-74276000	Enhancers	Dnd41	blood
37	chr15:74274000-74276200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:74274000-74276200	Enhancers	Fetal Intestine Large	intestine
39	chr15:74274000-74276400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr15:74274000-74276800	Enhancers	Fetal Lung	lung
41	chr15:74274000-74276800	Enhancers	Stomach Mucosa	stomach
42	chr15:74274000-74277000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr15:74274000-74277800	Enhancers	Esophagus	oesophagus
44	chr15:74274000-74278400	Enhancers	Primary B cells from cord blood	blood
45	chr15:74274200-74275800	Enhancers	Brain Angular Gyrus	brain
46	chr15:74274200-74276000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:74274200-74276200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr15:74274200-74276400	Genic enhancers	Fetal Intestine Small	intestine
49	chr15:74274200-74276400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:74274200-74278000	Enhancers	Placenta Amnion	Placenta Amnion

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