Variant report

Variant	rs28664814
Chromosome Location	chr15:74279867-74279868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr15:74279522-74279882	GM12878	blood:	n/a	n/a
2	MTA3	chr15:74279843-74280778	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
2	chr15:74278701..74281213-chr15:74283008..74286318,3	MCF-7	breast:

Variant related genes	Relation type
STOML1	TF binding region
ENSG00000067221	Chromatin interaction
ENSG00000140464	Chromatin interaction

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	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984526	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289412	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	0.87[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	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491832	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501585	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642322	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784560	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495728	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023773	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038882	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039455	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040503	0.87[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:74272800-74281000	Enhancers	Primary hematopoietic stem cells	blood
3	chr15:74273200-74280000	Enhancers	Left Ventricle	heart
4	chr15:74273800-74280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:74273800-74283600	Enhancers	HMEC	breast
6	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
7	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:74274600-74281800	Strong transcription	Brain Germinal Matrix	brain
9	chr15:74274600-74284000	Weak transcription	Ovary	ovary
10	chr15:74274800-74283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:74275000-74281200	Weak transcription	K562	blood
12	chr15:74275000-74283600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:74275000-74284000	Weak transcription	Aorta	Aorta
14	chr15:74275600-74281400	Strong transcription	Primary T cells from cord blood	blood
15	chr15:74275800-74280000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:74275800-74281400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:74275800-74281800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:74275800-74281800	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr15:74275800-74281800	Genic enhancers	Placenta	Placenta
20	chr15:74275800-74282800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr15:74276000-74280800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:74276000-74281000	Genic enhancers	Right Ventricle	heart
23	chr15:74276000-74281000	Genic enhancers	NHLF	lung
24	chr15:74276000-74281200	Genic enhancers	Lung	lung
25	chr15:74276000-74281800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:74276000-74282800	Weak transcription	Fetal Brain Male	brain
27	chr15:74276000-74283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:74276200-74280000	Weak transcription	A549	lung
29	chr15:74276200-74280000	Genic enhancers	NHEK	skin
30	chr15:74276200-74282800	Genic enhancers	Fetal Muscle Leg	muscle
31	chr15:74276200-74283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:74276400-74281400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr15:74276400-74281400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:74276600-74280200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:74276600-74280600	Strong transcription	Fetal Intestine Large	intestine
36	chr15:74276600-74281800	Strong transcription	Brain Hippocampus Middle	brain
37	chr15:74276600-74282200	Strong transcription	Fetal Brain Female	brain
38	chr15:74276600-74282800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:74276600-74283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:74276800-74281200	Weak transcription	Hela-S3	cervix
41	chr15:74276800-74282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:74277000-74280800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:74277000-74281200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:74277000-74281600	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr15:74277200-74280600	Weak transcription	Psoas Muscle	Psoas
46	chr15:74277200-74281000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:74277200-74282800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:74277400-74280400	Strong transcription	Gastric	stomach
49	chr15:74277400-74281600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr15:74277600-74281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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