Variant report

Variant	rs28727420
Chromosome Location	chr15:41093596-41093597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41091715..41095520-chr15:41097654..41103176,7	K562	blood:
2	chr15:41092798..41096525-chr15:41096883..41100416,6	K562	blood:
3	chr15:41055763..41058275-chr15:41091968..41094826,2	K562	blood:

Variant related genes	Relation type
ENSG00000104129	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000137880	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12102251	0.82[AFR][1000 genomes]
rs16971013	0.85[AMR][1000 genomes]
rs16971015	0.85[AMR][1000 genomes]
rs2004043	0.85[AMR][1000 genomes]
rs2412552	0.85[AMR][1000 genomes]
rs28480346	0.85[AMR][1000 genomes]
rs28498351	0.85[AMR][1000 genomes]
rs28578011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718778	0.85[AMR][1000 genomes]
rs28736321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036350	0.85[AMR][1000 genomes]
rs61317135	0.85[AMR][1000 genomes]
rs7165694	0.85[AMR][1000 genomes]
rs7178363	0.86[AFR][1000 genomes]
rs73398512	0.85[AMR][1000 genomes]
rs73398591	0.87[AFR][1000 genomes]
rs934783	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41072600-41098600	Weak transcription	Fetal Brain Female	brain
2	chr15:41072600-41098600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:41078200-41098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:41079600-41098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:41080000-41094600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:41080000-41099000	Weak transcription	Aorta	Aorta
7	chr15:41080400-41098200	Weak transcription	GM12878-XiMat	blood
8	chr15:41080400-41098600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:41080400-41098800	Weak transcription	Brain Angular Gyrus	brain
10	chr15:41080400-41098800	Weak transcription	Brain Anterior Caudate	brain
11	chr15:41080600-41098200	Weak transcription	Fetal Thymus	thymus
12	chr15:41080600-41098600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:41080600-41098600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:41080600-41098600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:41081400-41098200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:41081800-41094600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:41081800-41094600	Weak transcription	Ovary	ovary
18	chr15:41082000-41095000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:41082000-41096000	Weak transcription	Dnd41	blood
20	chr15:41082000-41098600	Weak transcription	Fetal Lung	lung
21	chr15:41082000-41098800	Weak transcription	Fetal Kidney	kidney
22	chr15:41084400-41098200	Weak transcription	Brain Germinal Matrix	brain
23	chr15:41084800-41095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:41084800-41098200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:41085000-41094800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:41085200-41095400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:41085800-41095400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:41086000-41094000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:41086000-41094200	Weak transcription	Right Atrium	heart
30	chr15:41086000-41095200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr15:41086000-41098200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:41086000-41098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:41086000-41098600	Weak transcription	Primary B cells from cord blood	blood
34	chr15:41086000-41098800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:41086000-41098800	Weak transcription	Esophagus	oesophagus
36	chr15:41086200-41094200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:41086200-41094600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:41086200-41094600	Weak transcription	NHLF	lung
39	chr15:41086200-41098400	Weak transcription	K562	blood
40	chr15:41086200-41098600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:41086200-41098600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:41086200-41098600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:41086200-41098600	Weak transcription	Brain Substantia Nigra	brain
44	chr15:41086200-41098600	Weak transcription	HSMM	muscle
45	chr15:41086200-41098600	Weak transcription	NH-A	brain
46	chr15:41086200-41098600	Weak transcription	Osteobl	bone
47	chr15:41086200-41098800	Weak transcription	HSMMtube	muscle
48	chr15:41086200-41098800	Weak transcription	NHDF-Ad	bronchial
49	chr15:41086400-41098600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:41086800-41095400	Weak transcription	Pancreas	Pancrea

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