Variant report

Variant	rs72751974
Chromosome Location	chr15:92471122-92471123
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92461234..92463493-chr15:92469669..92471554,2	K562	blood:
2	chr15:92467233..92469491-chr15:92470298..92472244,2	K562	blood:
3	chr15:92470402..92472292-chr15:92475155..92476710,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs4078179	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55638463	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55671921	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55713569	0.82[AMR][1000 genomes]
rs55771916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772252	0.81[EUR][1000 genomes]
rs55792858	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55879752	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55915922	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56000392	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040702	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56079731	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56100108	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358895	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56388730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61742322	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6496879	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165108	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750081	0.81[EUR][1000 genomes]
rs72750089	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72750091	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72750094	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72750095	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72750097	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72750100	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72750101	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751903	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72751904	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751905	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751975	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751987	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72751990	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751992	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751994	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751997	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754003	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754005	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72754006	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754008	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754010	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754011	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754013	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754014	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754017	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754018	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754019	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754021	0.82[AMR][1000 genomes]
rs72754023	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72754086	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8027174	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027910	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034107	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92460600-92472000	Enhancers	Right Atrium	heart
2	chr15:92462800-92474400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:92462800-92482600	Weak transcription	HMEC	breast
4	chr15:92463000-92471200	Enhancers	Brain Hippocampus Middle	brain
5	chr15:92463800-92482400	Weak transcription	Esophagus	oesophagus
6	chr15:92464600-92483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:92465000-92471600	Enhancers	Brain Cingulate Gyrus	brain
8	chr15:92465200-92474800	Enhancers	Right Ventricle	heart
9	chr15:92465400-92473600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:92466200-92472200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:92466200-92472200	Weak transcription	Spleen	Spleen
12	chr15:92466200-92472400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:92466400-92482200	Weak transcription	Pancreas	Pancrea
14	chr15:92466800-92480200	Weak transcription	Fetal Brain Female	brain
15	chr15:92467200-92472000	Enhancers	Ovary	ovary
16	chr15:92467800-92471200	Enhancers	Brain Anterior Caudate	brain
17	chr15:92468000-92478800	Weak transcription	Lung	lung
18	chr15:92469000-92472400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:92469200-92472400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:92469200-92477400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:92469400-92471200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr15:92469400-92483000	Weak transcription	Gastric	stomach
23	chr15:92469400-92485800	Weak transcription	Aorta	Aorta
24	chr15:92469600-92471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:92469600-92471600	Weak transcription	Colonic Mucosa	Colon
26	chr15:92469600-92471800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:92469600-92472200	Weak transcription	Psoas Muscle	Psoas
28	chr15:92469600-92477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:92469800-92471600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr15:92470000-92471200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr15:92470000-92471200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:92470000-92471400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:92470000-92471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr15:92470000-92474200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:92470200-92471200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:92470200-92472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:92470200-92472600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr15:92470200-92474400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:92470200-92478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:92470200-92478600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:92470400-92471400	Weak transcription	Fetal Brain Male	brain
42	chr15:92470400-92471400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:92470400-92474400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:92470400-92483200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:92470600-92471200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr15:92470600-92472800	Weak transcription	Adipose Nuclei	Adipose
47	chr15:92470600-92479800	Weak transcription	NHLF	lung
48	chr15:92470800-92471800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:92470800-92472400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:92470800-92474400	Weak transcription	Brain Substantia Nigra	brain

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