Variant report

Variant	rs2289412
Chromosome Location	chr15:74276092-74276093
allele	A/G
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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289411	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301272	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664814	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784560	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495728	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023773	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042532	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920026	0.85[AMR][1000 genomes];1.00[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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74267200-74277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:74272800-74281000	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:74273200-74280000	Enhancers	Left Ventricle	heart
5	chr15:74273800-74276400	Enhancers	HUVEC	blood vessel
6	chr15:74273800-74276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:74273800-74278000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:74273800-74278600	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:74273800-74278600	Enhancers	NH-A	brain
10	chr15:74273800-74279600	Enhancers	Right Atrium	heart
11	chr15:74273800-74280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:74273800-74283600	Enhancers	HMEC	breast
13	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
14	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:74274000-74276200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:74274000-74276200	Enhancers	Fetal Intestine Large	intestine
17	chr15:74274000-74276400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr15:74274000-74276800	Enhancers	Fetal Lung	lung
19	chr15:74274000-74276800	Enhancers	Stomach Mucosa	stomach
20	chr15:74274000-74277000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr15:74274000-74277800	Enhancers	Esophagus	oesophagus
22	chr15:74274000-74278400	Enhancers	Primary B cells from cord blood	blood
23	chr15:74274200-74276200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr15:74274200-74276400	Genic enhancers	Fetal Intestine Small	intestine
25	chr15:74274200-74276400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr15:74274200-74278000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr15:74274400-74276600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:74274600-74281800	Strong transcription	Brain Germinal Matrix	brain
29	chr15:74274600-74284000	Weak transcription	Ovary	ovary
30	chr15:74274800-74283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:74275000-74276200	Enhancers	HSMMtube	muscle
32	chr15:74275000-74276800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:74275000-74277200	Enhancers	Rectal Smooth Muscle	rectum
34	chr15:74275000-74277600	Enhancers	Colon Smooth Muscle	Colon
35	chr15:74275000-74277600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr15:74275000-74277800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:74275000-74278000	Enhancers	Colonic Mucosa	Colon
38	chr15:74275000-74278400	Enhancers	Fetal Heart	heart
39	chr15:74275000-74279000	Enhancers	HSMM	muscle
40	chr15:74275000-74281200	Weak transcription	K562	blood
41	chr15:74275000-74283600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:74275000-74284000	Weak transcription	Aorta	Aorta
43	chr15:74275200-74276400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr15:74275200-74279200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:74275400-74276200	Enhancers	A549	lung
46	chr15:74275400-74276600	Genic enhancers	Fetal Brain Female	brain
47	chr15:74275400-74276800	Enhancers	Hela-S3	cervix
48	chr15:74275400-74277200	Genic enhancers	Fetal Thymus	thymus
49	chr15:74275400-74278000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:74275400-74279400	Genic enhancers	Thymus	Thymus

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