Variant report

Variant	rs12442987
Chromosome Location	chr15:57914311-57914312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1009319	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10152310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10152878	1.00[ASN][1000 genomes]
rs10851618	1.00[ASN][1000 genomes]
rs10851619	1.00[ASN][1000 genomes]
rs11071335	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs11852838	1.00[ASN][1000 genomes]
rs11853270	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11856824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12323998	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12324010	1.00[ASN][1000 genomes]
rs12324289	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12324526	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs12442978	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12443389	1.00[ASN][1000 genomes]
rs12443485	1.00[ASN][1000 genomes]
rs13380406	1.00[ASN][1000 genomes]
rs13380418	1.00[ASN][1000 genomes]
rs1346125	1.00[ASN][1000 genomes]
rs16977630	1.00[CHB][hapmap]
rs17239937	1.00[ASN][1000 genomes]
rs17820515	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2172608	1.00[ASN][1000 genomes]
rs28557258	1.00[ASN][1000 genomes]
rs4774273	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs4774274	1.00[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs4774281	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4774282	1.00[ASN][1000 genomes]
rs4774971	1.00[ASN][1000 genomes]
rs4774974	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57589057	1.00[ASN][1000 genomes]
rs58017146	1.00[ASN][1000 genomes]
rs58919063	1.00[ASN][1000 genomes]
rs61600143	1.00[ASN][1000 genomes]
rs7178159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs72743512	1.00[ASN][1000 genomes]
rs72743516	1.00[ASN][1000 genomes]
rs72745565	1.00[ASN][1000 genomes]
rs7359330	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs74016366	1.00[ASN][1000 genomes]
rs9796502	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	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
3	chr15:57904400-57935200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:57904600-57914800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:57904600-57918000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:57904600-57919000	Weak transcription	Fetal Lung	lung
7	chr15:57904600-57919000	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:57904600-57919200	Weak transcription	Ovary	ovary
9	chr15:57904600-57921600	Weak transcription	Fetal Stomach	stomach
10	chr15:57904600-57936400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:57904800-57919000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:57904800-57919000	Weak transcription	Fetal Kidney	kidney
13	chr15:57905000-57917600	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:57905000-57940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:57911200-57918000	Weak transcription	HUVEC	blood vessel
16	chr15:57911400-57915200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:57911400-57918200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:57911800-57915600	Weak transcription	Gastric	stomach
19	chr15:57912200-57924000	Weak transcription	Esophagus	oesophagus
20	chr15:57912200-57939200	Weak transcription	Placenta	Placenta
21	chr15:57912400-57914600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:57912400-57916600	Weak transcription	Psoas Muscle	Psoas
23	chr15:57912400-57916800	Weak transcription	Pancreas	Pancrea
24	chr15:57912400-57917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:57912400-57918000	Weak transcription	Aorta	Aorta
26	chr15:57912400-57918000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:57912400-57921600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:57912400-57923800	Weak transcription	Lung	lung
29	chr15:57912800-57916400	Weak transcription	Right Ventricle	heart
30	chr15:57912800-57916600	Weak transcription	Fetal Intestine Large	intestine
31	chr15:57912800-57916600	Weak transcription	Stomach Mucosa	stomach
32	chr15:57912800-57916800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:57912800-57917800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:57912800-57919000	Weak transcription	Right Atrium	heart
35	chr15:57912800-57931600	Weak transcription	Spleen	Spleen
36	chr15:57913000-57915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:57913000-57915200	Weak transcription	Fetal Heart	heart
38	chr15:57913600-57914800	Strong transcription	Hela-S3	cervix
39	chr15:57913800-57918600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:57913800-57918600	Strong transcription	Adipose Nuclei	Adipose
41	chr15:57914000-57915200	Weak transcription	Left Ventricle	heart
42	chr15:57914000-57915600	Weak transcription	Fetal Intestine Small	intestine

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