Variant report

Variant	rs72750059
Chromosome Location	chr15:92428107-92428108
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92427249..92431082-chr15:92432596..92434786,3	MCF-7	breast:
2	chr15:92428046..92429766-chr15:92436964..92438643,2	K562	blood:
3	chr15:92426343..92429076-chr15:92432554..92434708,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11853482	0.99[EUR][1000 genomes]
rs17596562	1.00[AFR][1000 genomes]
rs4078179	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638463	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653850	1.00[AFR][1000 genomes]
rs55761412	1.00[AFR][1000 genomes]
rs55767000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771916	0.83[EUR][1000 genomes]
rs55772252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55879752	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888073	1.00[AFR][1000 genomes]
rs55908621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55919613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55934923	1.00[AFR][1000 genomes]
rs56040702	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079643	0.96[AMR][1000 genomes]
rs56079731	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168257	1.00[AFR][1000 genomes]
rs56277940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56292826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358895	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388730	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56880057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61742322	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750051	0.96[AMR][1000 genomes]
rs72750053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72750054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72750064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750072	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750089	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750091	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750094	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750095	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750097	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750100	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750101	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751903	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751904	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751905	0.83[EUR][1000 genomes]
rs72751967	0.83[EUR][1000 genomes]
rs72754094	1.00[AFR][1000 genomes]
rs72755606	1.00[AFR][1000 genomes]
rs72755608	1.00[AFR][1000 genomes]
rs72755613	1.00[AFR][1000 genomes]
rs72755617	1.00[AFR][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92404400-92433600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:92409600-92430800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:92410600-92445400	Weak transcription	Aorta	Aorta
4	chr15:92411200-92430600	Weak transcription	Colonic Mucosa	Colon
5	chr15:92411200-92431000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:92411600-92430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:92411600-92430600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:92414800-92429600	Weak transcription	Ovary	ovary
9	chr15:92415000-92432600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:92416200-92428400	Weak transcription	Esophagus	oesophagus
11	chr15:92416600-92431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:92416800-92430600	Weak transcription	HMEC	breast
13	chr15:92416800-92431000	Weak transcription	NHEK	skin
14	chr15:92418000-92435400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:92418400-92428200	Weak transcription	Spleen	Spleen
16	chr15:92418400-92430400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:92418400-92435800	Weak transcription	Primary T cells from cord blood	blood
18	chr15:92419000-92428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:92419600-92428600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:92419600-92430400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:92420200-92429200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:92421400-92430400	Enhancers	Brain Hippocampus Middle	brain
23	chr15:92422400-92429200	Weak transcription	Adipose Nuclei	Adipose
24	chr15:92422400-92430400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:92422600-92429200	Weak transcription	Fetal Brain Female	brain
26	chr15:92423600-92435800	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:92424200-92430800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:92424400-92429400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:92424400-92433000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:92424600-92430200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:92424800-92430600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:92425000-92429200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:92425000-92436400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:92425400-92430000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:92425600-92428200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:92425600-92428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:92425600-92428800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:92425600-92429400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:92425600-92429600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:92425600-92430200	Weak transcription	Gastric	stomach
41	chr15:92425600-92430600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:92425600-92433800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr15:92425800-92428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:92425800-92430400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:92426200-92428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:92426200-92428800	Enhancers	NHLF	lung
47	chr15:92426200-92429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:92426200-92436000	Enhancers	Brain Angular Gyrus	brain
49	chr15:92426600-92428400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:92426600-92429600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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