Variant report

Variant	rs72713191
Chromosome Location	chr15:45928195-45928196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45736069..45742318-chr15:45926037..45929619,6	MCF-7	breast:
2	chr15:45927181..45929961-chr15:45939240..45941307,2	MCF-7	breast:
3	chr15:45923721..45925487-chr15:45925745..45928411,3	MCF-7	breast:
4	chr15:45723625..45725327-chr15:45926093..45928681,2	MCF-7	breast:
5	chr15:45692929..45695674-chr15:45926950..45929580,2	MCF-7	breast:
6	chr15:45877908..45881944-chr15:45926466..45928753,3	MCF-7	breast:
7	chr15:45927063..45929876-chr15:45998234..45999862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171763	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000211519	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000104164	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16945097	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16946621	0.80[EUR][1000 genomes]
rs17627219	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966763	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3649	0.84[AMR][1000 genomes]
rs55755923	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55806911	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55913172	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56081351	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56190351	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56259807	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56304405	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56375332	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56395216	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57291883	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59593563	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60351453	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60378269	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61209164	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68044128	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164956	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165827	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178395	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7178879	0.91[ASN][1000 genomes]
rs7179265	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7179903	0.91[ASN][1000 genomes]
rs7181436	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713106	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713107	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713168	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713169	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713171	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713172	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713175	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713177	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713178	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713180	0.84[AMR][1000 genomes]
rs72713182	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713185	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713197	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713199	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72715003	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72715005	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72715008	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72715010	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715014	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715019	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715020	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715077	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72715082	0.83[EUR][1000 genomes]
rs8041902	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45926400-45928400	Active TSS	Brain Anterior Caudate	brain
2	chr15:45926400-45928400	Active TSS	Fetal Intestine Large	intestine
3	chr15:45926400-45928600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:45926400-45928600	Active TSS	A549	lung
5	chr15:45926600-45928200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:45926600-45928200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr15:45926600-45928200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:45926600-45928200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:45926600-45928200	Active TSS	Brain Substantia Nigra	brain
10	chr15:45926600-45928200	Flanking Active TSS	Placenta	Placenta
11	chr15:45926600-45928200	Active TSS	Gastric	stomach
12	chr15:45926600-45928200	Active TSS	Lung	lung
13	chr15:45926600-45928200	Active TSS	Spleen	Spleen
14	chr15:45926600-45928400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr15:45926600-45928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:45926600-45928400	Active TSS	Aorta	Aorta
17	chr15:45926600-45928400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:45926600-45928400	Active TSS	Esophagus	oesophagus
19	chr15:45926600-45928400	Active TSS	Pancreas	Pancrea
20	chr15:45926600-45928400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr15:45926600-45928600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:45926600-45928800	Active TSS	Small Intestine	intestine
23	chr15:45926600-45929200	Active TSS	Colonic Mucosa	Colon
24	chr15:45926600-45929200	Active TSS	Psoas Muscle	Psoas
25	chr15:45926800-45928200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:45926800-45928200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr15:45926800-45928200	Active TSS	Ovary	ovary
28	chr15:45926800-45928200	Active TSS	Rectal Smooth Muscle	rectum
29	chr15:45926800-45928200	Active TSS	NHLF	lung
30	chr15:45926800-45928400	Bivalent Enhancer	Fetal Brain Male	brain
31	chr15:45926800-45928400	Active TSS	Fetal Kidney	kidney
32	chr15:45926800-45928400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr15:45926800-45928400	Active TSS	Stomach Mucosa	stomach
34	chr15:45926800-45928400	Flanking Active TSS	HUVEC	blood vessel
35	chr15:45926800-45928800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:45926800-45928800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:45926800-45928800	Active TSS	Liver	Liver
38	chr15:45926800-45928800	Active TSS	Duodenum Mucosa	Duodenum
39	chr15:45926800-45928800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr15:45926800-45929000	Active TSS	Colon Smooth Muscle	Colon
41	chr15:45926800-45929200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:45927000-45928200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:45927000-45928200	Active TSS	Right Ventricle	heart
44	chr15:45927000-45928600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:45927000-45928600	Active TSS	NHEK	skin
46	chr15:45927000-45928800	Active TSS	GM12878-XiMat	blood
47	chr15:45927000-45928800	Active TSS	HMEC	breast
48	chr15:45927000-45928800	Active TSS	NHDF-Ad	bronchial
49	chr15:45927000-45929000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:45927200-45928200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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