Variant report

Variant	rs57338032
Chromosome Location	chr15:78798939-78798940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78797861-78798970	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr15:78798899-78798951	K562	blood:	n/a	n/a
3	TBL1XR1	chr15:78798922-78799044	K562	blood:	n/a	n/a
4	SETDB1	chr15:78798622-78799088	U2OS	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78798632..78802030-chr15:78802831..78805742,4	K562	blood:
2	chr15:78796921..78799074-chr15:78835568..78838304,2	K562	blood:
3	chr15:78798632..78801641-chr15:78802047..78805742,4	K562	blood:
4	chr15:78797464..78804546-chr15:78829529..78835433,12	MCF-7	breast:
5	chr15:78798809..78800718-chr15:78830322..78833228,2	K562	blood:
6	chr15:78798595..78799352-chr17:47269636..47270545,2	HCT-116	colon:
7	chr15:78729311..78731587-chr15:78798062..78799852,2	K562	blood:
8	chr15:78785786..78788600-chr15:78798276..78800163,3	K562	blood:
9	chr15:78798048..78801609-chr15:78828919..78833228,5	K562	blood:
10	chr15:78798844..78801827-chr15:78830907..78834394,5	MCF-7	breast:

No data

Variant related genes	Relation type
HYKK	TF binding region
ENSG00000136381	Chromatin interaction
ENSG00000268838	Chromatin interaction
ENSG00000188266	Chromatin interaction
ENSG00000041357	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11634990	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11637193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16969874	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16969883	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16969899	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16969906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2869048	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3743079	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817092	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57839482	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58766815	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61299530	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61388072	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72738729	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72738757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036042	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	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
3	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57338032	IREB2	cis	Whole Blood	GTEx

Chromatin state (count:114 , 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	chr15:78788400-78799200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:78788600-78799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:78788800-78799200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:78789000-78799400	Weak transcription	Small Intestine	intestine
19	chr15:78789600-78799200	Weak transcription	Lung	lung
20	chr15:78790000-78799200	Weak transcription	Stomach Mucosa	stomach
21	chr15:78790600-78799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:78790800-78799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:78790800-78799200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:78791000-78799000	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:78791200-78799000	Weak transcription	NHLF	lung
26	chr15:78791200-78799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:78791200-78799200	Weak transcription	Brain Substantia Nigra	brain
28	chr15:78791200-78799200	Weak transcription	Colonic Mucosa	Colon
29	chr15:78791200-78799200	Weak transcription	Left Ventricle	heart
30	chr15:78791200-78799400	Weak transcription	GM12878-XiMat	blood
31	chr15:78791200-78799800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:78791400-78799200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:78791400-78799200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:78791400-78799200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:78791400-78799200	Weak transcription	Brain Anterior Caudate	brain
36	chr15:78791400-78799200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:78791400-78799200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:78791400-78799200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:78791600-78799200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:78791600-78799200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:78791600-78799200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:78791600-78799200	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:78791600-78799200	Weak transcription	Fetal Kidney	kidney
44	chr15:78791600-78799400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:78791800-78799200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:78792000-78799200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr15:78792000-78799200	Weak transcription	Hela-S3	cervix
48	chr15:78792200-78799200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:78792400-78799200	Weak transcription	NHEK	skin
50	chr15:78792600-78799200	Weak transcription	Primary T cells from cord blood	blood

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