Variant report

Variant	rs12443389
Chromosome Location	chr15:57891858-57891859
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071335	0.89[AMR][1000 genomes];0.90[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	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324010	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12324289	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324526	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12442978	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12442987	1.00[ASN][1000 genomes]
rs12443485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380406	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380418	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346125	1.00[ASN][1000 genomes]
rs17239937	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820515	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172608	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557258	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4774273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774274	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774281	1.00[ASN][1000 genomes]
rs4774282	1.00[ASN][1000 genomes]
rs4774971	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774974	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57589057	1.00[ASN][1000 genomes]
rs58017146	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919063	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61600143	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178159	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743512	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743516	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[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	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57885200-57899000	Weak transcription	Hela-S3	cervix
2	chr15:57885200-57899400	Weak transcription	HUVEC	blood vessel
3	chr15:57885200-57899800	Weak transcription	Placenta	Placenta
4	chr15:57885400-57894600	Enhancers	Pancreas	Pancrea
5	chr15:57886000-57892000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:57886600-57896600	Enhancers	Adipose Nuclei	Adipose
7	chr15:57887800-57899200	Weak transcription	Colonic Mucosa	Colon
8	chr15:57887800-57899200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:57888600-57893800	Weak transcription	Thymus	Thymus
10	chr15:57889600-57892600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:57889800-57892600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr15:57889800-57895600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:57890000-57892000	Flanking Active TSS	Fetal Heart	heart
14	chr15:57890000-57899000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:57890000-57899400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:57890000-57902400	Weak transcription	Ovary	ovary
17	chr15:57890200-57904200	Weak transcription	Fetal Stomach	stomach
18	chr15:57890200-57904400	Weak transcription	Fetal Lung	lung
19	chr15:57890600-57893800	Weak transcription	Spleen	Spleen
20	chr15:57890600-57896200	Weak transcription	Aorta	Aorta
21	chr15:57890800-57892000	Enhancers	Psoas Muscle	Psoas
22	chr15:57891000-57895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:57891200-57892000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr15:57891200-57894200	Active TSS	Right Ventricle	heart
25	chr15:57891200-57895800	Active TSS	Right Atrium	heart
26	chr15:57891400-57892000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:57891400-57895600	Weak transcription	Stomach Mucosa	stomach
28	chr15:57891600-57892000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:57891600-57892000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:57891600-57892000	Enhancers	Esophagus	oesophagus
31	chr15:57891600-57892000	Enhancers	Gastric	stomach
32	chr15:57891600-57892000	Flanking Active TSS	Left Ventricle	heart
33	chr15:57891600-57892000	Enhancers	Lung	lung
34	chr15:57891600-57892000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:57891600-57892000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr15:57891600-57892200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr15:57891600-57892200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr15:57891600-57892200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr15:57891600-57892800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr15:57891600-57892800	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr15:57891800-57892000	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr15:57891800-57901200	Weak transcription	Colon Smooth Muscle	Colon

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