Variant report

Variant	rs72749478
Chromosome Location	chr15:57282451-57282452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57212275..57213860-chr15:57281190..57283282,2	K562	blood:
2	chr15:57281787..57284402-chr15:57285432..57287690,2	K562	blood:
3	chr15:57277263..57280006-chr15:57281828..57283970,2	K562	blood:
4	chr15:57277206..57280483-chr15:57280538..57284418,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1015967	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10438332	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11071302	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1139006	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630965	0.89[EUR][1000 genomes]
rs11632502	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11632526	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11636655	0.82[AMR][1000 genomes]
rs11856338	0.89[EUR][1000 genomes]
rs12148850	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591367	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595644	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12906025	0.83[EUR][1000 genomes]
rs1346880	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1367491	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1625176	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1628974	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1631079	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642925	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642927	0.95[EUR][1000 genomes]
rs1642928	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642929	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1642935	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642937	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642940	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1652732	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1652737	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652738	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652739	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1652740	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1652741	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1657926	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs169893	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17239222	0.82[EUR][1000 genomes]
rs1820996	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs190039	0.89[EUR][1000 genomes]
rs2111892	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2126402	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs213148	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213152	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs213155	0.85[AMR][1000 genomes]
rs213160	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs213163	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs213166	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213168	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2169468	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2252289	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2435905	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2439921	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2439925	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464427	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2464428	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2470080	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470081	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470083	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470084	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2543675	0.83[EUR][1000 genomes]
rs2566840	0.84[AMR][1000 genomes]
rs2566844	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2566846	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2566856	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2585076	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2585116	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703588	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733187	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2915176	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2920266	0.85[AMR][1000 genomes]
rs2920268	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2920270	0.82[EUR][1000 genomes]
rs2920272	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2951896	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2951897	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2951900	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2951902	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2957573	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957576	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957578	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2957592	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2962994	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2962995	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55886927	0.90[EUR][1000 genomes]
rs7168945	0.88[EUR][1000 genomes]
rs7183392	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72731924	0.82[AMR][1000 genomes]
rs72749491	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7359192	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8029445	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9806712	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57269800-57304800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:57273000-57283200	Weak transcription	Spleen	Spleen
3	chr15:57273000-57285800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:57273000-57307200	Weak transcription	Fetal Intestine Small	intestine
5	chr15:57274000-57287600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:57274200-57289200	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:57274200-57295600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:57275400-57306200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:57276200-57282600	Enhancers	Brain Substantia Nigra	brain
10	chr15:57276200-57284000	Weak transcription	Lung	lung
11	chr15:57276200-57289200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:57276200-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:57276600-57283000	Weak transcription	Left Ventricle	heart
14	chr15:57276600-57283200	Weak transcription	Right Atrium	heart
15	chr15:57276600-57288000	Weak transcription	Aorta	Aorta
16	chr15:57276800-57288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:57277000-57285400	Weak transcription	Fetal Intestine Large	intestine
18	chr15:57277000-57313400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:57277600-57287600	Weak transcription	Brain Germinal Matrix	brain
20	chr15:57277800-57285000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:57278000-57282800	Enhancers	Brain Hippocampus Middle	brain
22	chr15:57278000-57285400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:57278600-57295400	Weak transcription	NH-A	brain
24	chr15:57279400-57282600	Enhancers	HepG2	liver
25	chr15:57279400-57300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:57279600-57282600	Weak transcription	Fetal Thymus	thymus
27	chr15:57279600-57301800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:57279800-57282600	Enhancers	Fetal Heart	heart
29	chr15:57279800-57300200	Weak transcription	Psoas Muscle	Psoas
30	chr15:57280000-57282600	Enhancers	Brain Anterior Caudate	brain
31	chr15:57280000-57282600	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:57280400-57282600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:57280400-57282600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr15:57280400-57282800	Enhancers	Brain Angular Gyrus	brain
35	chr15:57280600-57286800	Weak transcription	Fetal Brain Male	brain
36	chr15:57280600-57294000	Weak transcription	HSMMtube	muscle
37	chr15:57280800-57282600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:57281000-57283000	Weak transcription	Dnd41	blood
39	chr15:57281200-57287600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:57281600-57285600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:57282000-57284800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:57282000-57285000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:57282000-57285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:57282000-57285000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:57282000-57285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:57282000-57285200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:57282000-57285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:57282000-57285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:57282000-57285400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:57282000-57285600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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