Variant report

Variant	rs72715020
Chromosome Location	chr15:45946851-45946852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45940658..45942644-chr15:45946028..45948330,2	MCF-7	breast:
2	chr15:45945911..45948903-chr15:45960461..45962658,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12914664	1.00[ASN][1000 genomes]
rs16945097	0.92[EUR][1000 genomes]
rs16946621	0.83[EUR][1000 genomes]
rs17627219	0.91[EUR][1000 genomes]
rs1966763	0.92[EUR][1000 genomes]
rs35053544	1.00[ASN][1000 genomes]
rs35325894	1.00[ASN][1000 genomes]
rs3649	1.00[ASN][1000 genomes]
rs55755923	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806911	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55913172	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56081351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190351	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56259807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56304405	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56375332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56395216	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291883	0.91[EUR][1000 genomes]
rs59593563	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60351453	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60378269	0.89[EUR][1000 genomes]
rs61209164	0.91[EUR][1000 genomes]
rs68044128	0.91[EUR][1000 genomes]
rs68120365	1.00[ASN][1000 genomes]
rs7164956	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7165827	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7178395	0.89[EUR][1000 genomes]
rs7179265	0.91[EUR][1000 genomes]
rs7181436	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72713106	0.90[EUR][1000 genomes]
rs72713107	0.91[EUR][1000 genomes]
rs72713168	0.91[EUR][1000 genomes]
rs72713169	0.91[EUR][1000 genomes]
rs72713171	0.91[EUR][1000 genomes]
rs72713172	0.91[EUR][1000 genomes]
rs72713175	0.91[EUR][1000 genomes]
rs72713177	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713178	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713180	1.00[ASN][1000 genomes]
rs72713182	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72713185	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72713191	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72713197	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72713199	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72713201	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715003	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72715005	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72715008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715010	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715082	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041902	0.91[EUR][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	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
3	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45933800-45951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:45934200-45961600	Weak transcription	Fetal Kidney	kidney
3	chr15:45938400-45950400	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:45938600-45951000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:45938600-45952600	Weak transcription	Adipose Nuclei	Adipose
6	chr15:45938800-45949400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:45938800-45954200	Weak transcription	Aorta	Aorta
8	chr15:45941400-45950600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:45941600-45949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:45941600-45951800	Weak transcription	Thymus	Thymus
11	chr15:45941600-45952400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:45941600-45952600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:45941600-45954000	Weak transcription	Hela-S3	cervix
14	chr15:45941600-45966800	Weak transcription	NHLF	lung
15	chr15:45942200-45950800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:45942200-45951600	Weak transcription	NHEK	skin
17	chr15:45942600-45950600	Weak transcription	HMEC	breast
18	chr15:45942800-45949200	Weak transcription	Liver	Liver
19	chr15:45942800-45950800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:45942800-45951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:45942800-45951800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:45942800-45952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45943200-45949400	Weak transcription	Fetal Stomach	stomach
24	chr15:45943600-45948200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:45943800-45949000	Weak transcription	Fetal Intestine Large	intestine
26	chr15:45943800-45950400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:45943800-45950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:45943800-45956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:45944000-45950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:45944200-45948400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:45944400-45948600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:45945000-45947600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr15:45945200-45947800	Enhancers	Colon Smooth Muscle	Colon
34	chr15:45945400-45947000	Enhancers	Esophagus	oesophagus
35	chr15:45945400-45947200	Enhancers	Pancreas	Pancrea
36	chr15:45945400-45947200	Enhancers	Spleen	Spleen
37	chr15:45945400-45947400	Enhancers	Psoas Muscle	Psoas
38	chr15:45945600-45947000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr15:45945600-45947200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:45945600-45947200	Enhancers	Rectal Smooth Muscle	rectum
41	chr15:45945600-45947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr15:45945600-45947600	Enhancers	Stomach Mucosa	stomach
43	chr15:45945600-45951200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:45945800-45951200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:45945800-45953600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:45946000-45947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:45946000-45947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:45946000-45950600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr15:45946000-45951200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:45946200-45949200	Weak transcription	Colonic Mucosa	Colon

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