Variant report

Variant	rs72743512
Chromosome Location	chr15:57901173-57901174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57892782..57895181-chr15:57899223..57902002,2	MCF-7	breast:
2	chr15:57883895..57885993-chr15:57900573..57902281,2	MCF-7	breast:
3	chr15:57890403..57892737-chr15:57900809..57902698,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255529	Chromatin interaction
ENSG00000263155	Chromatin interaction
ENSG00000137878	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009319	1.00[ASN][1000 genomes]
rs10152310	1.00[ASN][1000 genomes]
rs10152878	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851618	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851619	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071335	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852838	1.00[ASN][1000 genomes]
rs11853270	1.00[ASN][1000 genomes]
rs11856824	1.00[ASN][1000 genomes]
rs12323998	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324010	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12324289	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324526	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12442978	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12442987	1.00[ASN][1000 genomes]
rs12443389	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443485	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380406	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380418	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346125	1.00[ASN][1000 genomes]
rs17239937	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820515	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172608	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557258	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4774273	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774274	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774281	1.00[ASN][1000 genomes]
rs4774282	1.00[ASN][1000 genomes]
rs4774971	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774974	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57589057	1.00[ASN][1000 genomes]
rs58017146	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919063	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61600143	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178159	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743516	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745565	1.00[ASN][1000 genomes]
rs7359330	1.00[ASN][1000 genomes]
rs74016366	1.00[ASN][1000 genomes]
rs9796502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
3	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57890000-57902400	Weak transcription	Ovary	ovary
2	chr15:57890200-57904200	Weak transcription	Fetal Stomach	stomach
3	chr15:57890200-57904400	Weak transcription	Fetal Lung	lung
4	chr15:57891800-57901200	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:57892000-57908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:57892600-57903200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr15:57897000-57909200	Weak transcription	Psoas Muscle	Psoas
9	chr15:57897200-57903600	Weak transcription	Aorta	Aorta
10	chr15:57897200-57903800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:57899000-57901200	Enhancers	Right Atrium	heart
12	chr15:57899000-57901600	Genic enhancers	Fetal Intestine Small	intestine
13	chr15:57899000-57901800	Enhancers	Pancreas	Pancrea
14	chr15:57899000-57902600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:57899000-57905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:57899200-57901200	Enhancers	Esophagus	oesophagus
17	chr15:57899200-57901200	Genic enhancers	Left Ventricle	heart
18	chr15:57899200-57901400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr15:57899200-57901800	Enhancers	Spleen	Spleen
20	chr15:57899200-57905000	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:57899200-57905200	Enhancers	Fetal Heart	heart
22	chr15:57899400-57901800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:57899400-57903400	Enhancers	HUVEC	blood vessel
24	chr15:57899400-57904000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:57899600-57904000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:57899800-57903600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:57900000-57902000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:57900000-57904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:57900000-57904200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:57900200-57901400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:57900200-57902000	Weak transcription	NH-A	brain
32	chr15:57900200-57902000	Weak transcription	Osteobl	bone
33	chr15:57900200-57902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:57900200-57902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:57900200-57904200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:57900200-57904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:57900400-57902000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:57900400-57902200	Weak transcription	NHEK	skin
39	chr15:57900400-57903600	Weak transcription	HMEC	breast
40	chr15:57900400-57904400	Enhancers	Stomach Mucosa	stomach
41	chr15:57900600-57901200	Enhancers	Right Ventricle	heart
42	chr15:57900600-57901600	Weak transcription	A549	lung
43	chr15:57900600-57901800	Strong transcription	Adipose Nuclei	Adipose
44	chr15:57900600-57902200	Enhancers	Hela-S3	cervix
45	chr15:57900600-57902600	Weak transcription	Gastric	stomach
46	chr15:57900600-57904000	Weak transcription	Placenta	Placenta
47	chr15:57900600-57905200	Enhancers	Fetal Intestine Large	intestine
48	chr15:57900600-57911800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
50	chr15:57900800-57901800	Enhancers	Small Intestine	intestine

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