Variant report

Variant	rs2453098
Chromosome Location	chr15:57905077-57905078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11071340	1.00[CEU][hapmap]
rs11071342	1.00[CEU][hapmap]
rs12440250	1.00[CEU][hapmap]
rs1346120	1.00[CEU][hapmap]
rs1593439	1.00[CEU][hapmap]
rs1666582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1690330	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1690332	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2081515	1.00[CEU][hapmap]
rs2414516	1.00[CEU][hapmap]
rs2442072	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451181	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453095	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453096	0.85[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453097	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2635379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899603	1.00[CEU][hapmap]
rs2934430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934433	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4564513	1.00[CEU][hapmap]
rs4774279	1.00[CEU][hapmap]
rs4774280	1.00[CEU][hapmap]
rs57014962	1.00[EUR][1000 genomes]
rs6493941	1.00[CEU][hapmap]
rs6493942	1.00[CEU][hapmap]
rs7173197	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs724785	1.00[CEU][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8023855	1.00[CEU][hapmap]
rs8024008	1.00[CEU][hapmap]
rs8024736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025907	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs935547	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921015	1.00[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2453098	IFI27	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57892000-57908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr15:57897000-57909200	Weak transcription	Psoas Muscle	Psoas
4	chr15:57899200-57905200	Enhancers	Fetal Heart	heart
5	chr15:57900600-57905200	Enhancers	Fetal Intestine Large	intestine
6	chr15:57900600-57911800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
8	chr15:57901800-57912000	Weak transcription	Spleen	Spleen
9	chr15:57902600-57907800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:57903000-57907600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:57903000-57907800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:57903200-57907600	Weak transcription	Esophagus	oesophagus
13	chr15:57904200-57906000	Weak transcription	HepG2	liver
14	chr15:57904400-57935200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:57904600-57906000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:57904600-57906400	Weak transcription	Left Ventricle	heart
17	chr15:57904600-57906400	Weak transcription	Lung	lung
18	chr15:57904600-57906400	Weak transcription	Pancreas	Pancrea
19	chr15:57904600-57906400	Weak transcription	Right Ventricle	heart
20	chr15:57904600-57907200	Weak transcription	Adipose Nuclei	Adipose
21	chr15:57904600-57907600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:57904600-57910600	Weak transcription	Gastric	stomach
23	chr15:57904600-57914800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:57904600-57918000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:57904600-57919000	Weak transcription	Fetal Lung	lung
26	chr15:57904600-57919000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:57904600-57919200	Weak transcription	Ovary	ovary
28	chr15:57904600-57921600	Weak transcription	Fetal Stomach	stomach
29	chr15:57904600-57936400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:57904800-57906800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:57904800-57910000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:57904800-57910800	Weak transcription	HUVEC	blood vessel
33	chr15:57904800-57919000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:57904800-57919000	Weak transcription	Fetal Kidney	kidney
35	chr15:57905000-57905800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:57905000-57906200	Weak transcription	Fetal Intestine Small	intestine
37	chr15:57905000-57906400	Weak transcription	Right Atrium	heart
38	chr15:57905000-57907400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:57905000-57907600	Weak transcription	Stomach Mucosa	stomach
40	chr15:57905000-57910000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:57905000-57912000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:57905000-57912200	Weak transcription	Hela-S3	cervix
43	chr15:57905000-57917600	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:57905000-57940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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