Variant report

Variant	rs72713178
Chromosome Location	chr15:45882393-45882394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45693469..45695036-chr15:45881959..45883535,2	K562	blood:

Variant related genes	Relation type
ENSG00000171763	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16945097	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17627219	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1966763	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3649	0.84[AMR][1000 genomes]
rs55755923	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55806911	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55913172	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55997350	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56081351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56179992	0.82[ASN][1000 genomes]
rs56190351	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56259807	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56304405	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56375332	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56395216	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57291883	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59593563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60351453	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60378269	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60992352	0.82[ASN][1000 genomes]
rs61209164	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68044128	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164956	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7165827	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178395	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7178879	0.93[ASN][1000 genomes]
rs7179265	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7179903	0.93[ASN][1000 genomes]
rs7181436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72711301	0.82[ASN][1000 genomes]
rs72713103	0.82[ASN][1000 genomes]
rs72713104	0.82[ASN][1000 genomes]
rs72713105	0.82[ASN][1000 genomes]
rs72713106	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713107	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713168	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713169	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713171	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713172	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713175	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713177	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713180	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72713182	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713185	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713191	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713197	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72713199	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72713201	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72715003	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72715005	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715008	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72715010	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715014	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715019	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715020	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8025407	0.82[ASN][1000 genomes]
rs8041902	0.99[EUR][1000 genomes];0.93[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	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45880200-45887000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45880400-45887000	Weak transcription	Lung	lung
3	chr15:45880400-45900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:45880800-45882400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:45881000-45883400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr15:45881000-45884200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:45881000-45884400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:45881000-45886200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:45881000-45886600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:45881000-45888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45881000-45900200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
14	chr15:45881200-45882600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:45881200-45883000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr15:45881200-45883000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr15:45881200-45883000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:45881200-45883000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:45881200-45883400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:45881200-45884200	Weak transcription	Fetal Thymus	thymus
21	chr15:45881200-45884400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:45881200-45884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:45881200-45884600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:45881200-45884600	Weak transcription	Placenta	Placenta
25	chr15:45881200-45884800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:45881200-45886600	Weak transcription	Left Ventricle	heart
27	chr15:45881200-45888200	Weak transcription	Aorta	Aorta
28	chr15:45881200-45888200	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:45881200-45888200	Weak transcription	Right Ventricle	heart
30	chr15:45881200-45889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:45881200-45890200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:45881200-45895800	Weak transcription	Spleen	Spleen
33	chr15:45881200-45898000	Weak transcription	Pancreas	Pancrea
34	chr15:45881200-45899800	Weak transcription	Small Intestine	intestine
35	chr15:45881200-45900200	Weak transcription	Colonic Mucosa	Colon
36	chr15:45881200-45900200	Weak transcription	Gastric	stomach
37	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:45881400-45882400	Enhancers	Fetal Kidney	kidney
39	chr15:45881400-45882400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr15:45881400-45882600	Weak transcription	Adipose Nuclei	Adipose
41	chr15:45881400-45882600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:45881400-45882600	Active TSS	GM12878-XiMat	blood
43	chr15:45881400-45883000	Enhancers	Liver	Liver
44	chr15:45881400-45883000	Enhancers	Colon Smooth Muscle	Colon
45	chr15:45881400-45883200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:45881400-45883400	Enhancers	Brain Hippocampus Middle	brain
47	chr15:45881400-45883400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:45881400-45883400	Enhancers	HepG2	liver
49	chr15:45881400-45884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:45881400-45884600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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