Variant report

Variant	rs28657431
Chromosome Location	chr15:72404557-72404558
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72399406..72401734-chr15:72404487..72406226,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs13329116	1.00[AMR][1000 genomes]
rs13329270	1.00[AMR][1000 genomes]
rs13329340	1.00[AMR][1000 genomes]
rs28367264	1.00[AMR][1000 genomes]
rs28373432	1.00[AMR][1000 genomes]
rs28378260	1.00[AMR][1000 genomes]
rs28379334	1.00[AMR][1000 genomes]
rs28393460	1.00[AMR][1000 genomes]
rs28396234	1.00[AMR][1000 genomes]
rs28397237	1.00[AMR][1000 genomes]
rs28397783	1.00[AMR][1000 genomes]
rs28403882	1.00[AMR][1000 genomes]
rs28408067	1.00[AMR][1000 genomes]
rs28409864	1.00[AMR][1000 genomes]
rs28413902	1.00[AMR][1000 genomes]
rs28416103	1.00[AMR][1000 genomes]
rs28428645	1.00[AMR][1000 genomes]
rs28429589	1.00[AMR][1000 genomes]
rs28430988	1.00[AMR][1000 genomes]
rs28445807	1.00[AMR][1000 genomes]
rs28448787	1.00[AMR][1000 genomes]
rs28449356	1.00[AMR][1000 genomes]
rs28450008	1.00[AMR][1000 genomes]
rs28450424	1.00[AMR][1000 genomes]
rs28451732	1.00[AMR][1000 genomes]
rs28455090	1.00[AMR][1000 genomes]
rs28456991	1.00[AMR][1000 genomes]
rs28470660	1.00[AMR][1000 genomes]
rs28482979	1.00[AMR][1000 genomes]
rs28483934	1.00[AMR][1000 genomes]
rs28485920	1.00[AMR][1000 genomes]
rs28501562	1.00[AMR][1000 genomes]
rs28504509	1.00[AMR][1000 genomes]
rs28504990	1.00[AMR][1000 genomes]
rs28514321	1.00[AMR][1000 genomes]
rs28529658	1.00[AMR][1000 genomes]
rs28536592	1.00[AMR][1000 genomes]
rs28542557	1.00[AMR][1000 genomes]
rs28543029	1.00[AMR][1000 genomes]
rs28547979	1.00[AMR][1000 genomes]
rs28548453	1.00[AMR][1000 genomes]
rs28552371	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28553452	1.00[AMR][1000 genomes]
rs28569017	1.00[AMR][1000 genomes]
rs28570214	1.00[AMR][1000 genomes]
rs28573725	1.00[AMR][1000 genomes]
rs28578220	1.00[AMR][1000 genomes]
rs28583168	1.00[AMR][1000 genomes]
rs28589979	1.00[AMR][1000 genomes]
rs28599944	1.00[AMR][1000 genomes]
rs28605814	1.00[AMR][1000 genomes]
rs28628140	1.00[AMR][1000 genomes]
rs28628792	1.00[AMR][1000 genomes]
rs28634283	1.00[AMR][1000 genomes]
rs28636054	1.00[AMR][1000 genomes]
rs28639590	1.00[AMR][1000 genomes]
rs28642081	1.00[AMR][1000 genomes]
rs28643436	1.00[AMR][1000 genomes]
rs28643497	1.00[AMR][1000 genomes]
rs28654176	1.00[AMR][1000 genomes]
rs28654851	1.00[AMR][1000 genomes]
rs28654861	1.00[AMR][1000 genomes]
rs28658414	1.00[AMR][1000 genomes]
rs28660217	1.00[AMR][1000 genomes]
rs28660581	1.00[AMR][1000 genomes]
rs28662800	1.00[AMR][1000 genomes]
rs28663692	1.00[AMR][1000 genomes]
rs28667521	1.00[AMR][1000 genomes]
rs28670261	1.00[AMR][1000 genomes]
rs28675378	1.00[AMR][1000 genomes]
rs28676909	1.00[AMR][1000 genomes]
rs28681225	1.00[AMR][1000 genomes]
rs28690018	1.00[AMR][1000 genomes]
rs28701136	1.00[AMR][1000 genomes]
rs28705696	1.00[AMR][1000 genomes]
rs28707151	1.00[AMR][1000 genomes]
rs28707565	1.00[AMR][1000 genomes]
rs28709937	1.00[AMR][1000 genomes]
rs28715777	1.00[AMR][1000 genomes]
rs28725348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28727443	1.00[AMR][1000 genomes]
rs28741048	1.00[AMR][1000 genomes]
rs28786091	1.00[AMR][1000 genomes]
rs28791192	1.00[AMR][1000 genomes]
rs28801155	1.00[AMR][1000 genomes]
rs28808678	1.00[AMR][1000 genomes]
rs28809863	1.00[AMR][1000 genomes]
rs28824293	1.00[AMR][1000 genomes]
rs28830268	1.00[AMR][1000 genomes]
rs28833566	1.00[AMR][1000 genomes]
rs28853032	1.00[AMR][1000 genomes]
rs28872877	1.00[AMR][1000 genomes]
rs28879707	1.00[AMR][1000 genomes]
rs8192372	1.00[AMR][1000 genomes]
rs9888653	1.00[AMR][1000 genomes]
rs9920204	1.00[AMR][1000 genomes]
rs9920223	1.00[AMR][1000 genomes]
rs9920476	1.00[AMR][1000 genomes]
rs9920987	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
9	nsv510665	chr15:72374862-72407548	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv511557	chr15:72386175-72408069	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
3	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:72390400-72407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:72391800-72406600	Weak transcription	Ovary	ovary
8	chr15:72395800-72407800	Weak transcription	HMEC	breast
9	chr15:72395800-72409000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:72395800-72409200	Weak transcription	Gastric	stomach
11	chr15:72396000-72404600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:72396400-72408800	Weak transcription	Right Ventricle	heart
13	chr15:72396600-72408200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:72397800-72408200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:72397800-72408200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:72399800-72404800	Weak transcription	Fetal Heart	heart
17	chr15:72399800-72405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:72399800-72408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:72400600-72405400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:72401600-72409200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:72402600-72407800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:72403200-72406200	Weak transcription	HepG2	liver
23	chr15:72403600-72405400	Enhancers	Fetal Muscle Leg	muscle
24	chr15:72404000-72405000	Enhancers	Psoas Muscle	Psoas
25	chr15:72404000-72406000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:72404000-72408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:72404000-72408600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr15:72404200-72404600	Enhancers	HSMMtube	muscle
29	chr15:72404200-72404800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:72404200-72405800	Enhancers	Rectal Smooth Muscle	rectum
31	chr15:72404200-72406200	Enhancers	HSMM	muscle
32	chr15:72404200-72406800	Enhancers	Osteobl	bone
33	chr15:72404200-72407200	Enhancers	A549	lung
34	chr15:72404200-72408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:72404200-72408200	Enhancers	Fetal Lung	lung
36	chr15:72404200-72408800	Enhancers	Colon Smooth Muscle	Colon
37	chr15:72404400-72405000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:72404400-72405600	Weak transcription	NHLF	lung
39	chr15:72404400-72406200	Weak transcription	Fetal Stomach	stomach

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