Variant report

Variant	rs5019044
Chromosome Location	chr15:78796282-78796283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11072766	1.00[CEU][hapmap]
rs2036533	0.82[AFR][1000 genomes]
rs2568483	1.00[CEU][hapmap]
rs2568485	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs2568488	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs2656069	1.00[CEU][hapmap]
rs2656071	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs2656073	1.00[CEU][hapmap]
rs2869032	0.93[CEU][hapmap];0.88[YRI][hapmap]
rs2869045	0.93[CEU][hapmap]
rs2938671	0.94[CEU][hapmap];0.88[YRI][hapmap]
rs2938674	1.00[CEU][hapmap]
rs2958719	1.00[CEU][hapmap]
rs4887053	0.93[CEU][hapmap];0.86[YRI][hapmap]
rs7174348	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs924840	0.93[CEU][hapmap];0.86[YRI][hapmap]
rs9672608	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv94512	chr15:78794159-78801222	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5019044	IREB2	Cis_1M	lymphoblastoid	RTeQTL
rs5019044	IREB2	cis	lesional skin	skin_eQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:78766000-78799200	Weak transcription	Fetal Heart	heart
3	chr15:78777000-78799400	Weak transcription	Gastric	stomach
4	chr15:78779200-78799000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:78779400-78799200	Weak transcription	Pancreas	Pancrea
6	chr15:78782200-78799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:78785600-78799200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:78785600-78799200	Weak transcription	Right Ventricle	heart
9	chr15:78785600-78799400	Weak transcription	Spleen	Spleen
10	chr15:78785800-78799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78787400-78799200	Weak transcription	Esophagus	oesophagus
12	chr15:78787400-78799400	Weak transcription	Aorta	Aorta
13	chr15:78787800-78799200	Weak transcription	Right Atrium	heart
14	chr15:78788000-78799200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:78788200-78798800	Weak transcription	Fetal Brain Male	brain
16	chr15:78788400-78799200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:78788600-78799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:78788800-78799200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:78789000-78799400	Weak transcription	Small Intestine	intestine
20	chr15:78789400-78797800	Weak transcription	HSMMtube	muscle
21	chr15:78789600-78799200	Weak transcription	Lung	lung
22	chr15:78790000-78799200	Weak transcription	Stomach Mucosa	stomach
23	chr15:78790600-78799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:78790800-78799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:78790800-78799200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:78791000-78799000	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:78791200-78796800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:78791200-78799000	Weak transcription	NHLF	lung
29	chr15:78791200-78799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:78791200-78799200	Weak transcription	Brain Substantia Nigra	brain
31	chr15:78791200-78799200	Weak transcription	Colonic Mucosa	Colon
32	chr15:78791200-78799200	Weak transcription	Left Ventricle	heart
33	chr15:78791200-78799400	Weak transcription	GM12878-XiMat	blood
34	chr15:78791200-78799800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:78791400-78799200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:78791400-78799200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:78791400-78799200	Weak transcription	Brain Angular Gyrus	brain
38	chr15:78791400-78799200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:78791400-78799200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:78791400-78799200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:78791400-78799200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:78791600-78797200	Weak transcription	Primary B cells from cord blood	blood
43	chr15:78791600-78799200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr15:78791600-78799200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:78791600-78799200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:78791600-78799200	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:78791600-78799200	Weak transcription	Fetal Kidney	kidney
48	chr15:78791600-78799400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:78791800-78798800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:78791800-78799200	Weak transcription	Primary B cells from peripheral blood	blood

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