Variant report

Variant	rs8033381
Chromosome Location	chr15:75080685-75080686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr15:75079607-75081355	GM12878	blood:	n/a	n/a
2	FOXM1	chr15:75079358-75081791	GM12878	blood:	n/a	n/a
3	CREB1	chr15:75079691-75081604	GM12878	blood:	n/a	n/a
4	SPI1	chr15:75079235-75080757	GM12878	blood:	n/a	chr15:75080342-75080351 chr15:75080585-75080598
5	RELA	chr15:75079731-75081849	GM18526	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
6	BCLAF1	chr15:75079284-75082025	GM12878	blood:	n/a	chr15:75081349-75081362 chr15:75080342-75080351
7	E2F4	chr15:75079866-75080699	GM12878	blood:	n/a	n/a
8	ETS1	chr15:75079663-75080717	GM12878	blood:	n/a	chr15:75080342-75080353 chr15:75080342-75080355 chr15:75080340-75080354
9	RELA	chr15:75078968-75083276	GM18951	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
10	MEF2A	chr15:75079477-75080696	GM12878	blood:	n/a	chr15:75079564-75079575 chr15:75079565-75079574
11	ATF2	chr15:75078945-75081778	GM12878	blood:	n/a	chr15:75079326-75079340
12	POLR2A	chr15:75077574-75083240	GM19193	blood:	n/a	n/a
13	NFATC1	chr15:75079098-75082965	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:75078871-75082774	GM12891	blood:	n/a	n/a
15	STAT3	chr15:75079696-75081648	GM12878	blood:	n/a	chr15:75081561-75081573
16	POLR2A	chr15:75078541-75083313	GM12892	blood:	n/a	n/a
17	RCOR1	chr15:75079715-75080838	IMR90	lung:	n/a	n/a
18	POLR2A	chr15:75078876-75083272	GM12878	blood:	n/a	n/a
19	RELA	chr15:75078928-75083342	GM18505	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
20	BHLHE40	chr15:75079621-75081908	GM12878	blood:	n/a	chr15:75081355-75081371
21	RELA	chr15:75079439-75082060	GM15510	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
22	POU2F2	chr15:75078933-75083247	GM12878	blood:	n/a	chr15:75081175-75081185 chr15:75081175-75081185 chr15:75081174-75081186 chr15:75081172-75081187 chr15:75081176-75081183 chr15:75081168-75081189 chr15:75081174-75081184 chr15:75081175-75081183 chr15:75081175-75081184 chr15:75081170-75081188 chr15:75081173-75081184
23	POLR2A	chr15:75078956-75083263	GM12892	blood:	n/a	n/a
24	CHD2	chr15:75079257-75083224	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:75079535-75083264	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:75076731-75083396	GM12892	blood:	n/a	n/a
27	BRCA1	chr15:75079767-75081462	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
29	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
30	POU2F2	chr15:75079637-75081601	GM12878	blood:	n/a	chr15:75081175-75081185 chr15:75081175-75081185 chr15:75081174-75081186 chr15:75081172-75081187 chr15:75081176-75081183 chr15:75081168-75081189 chr15:75081174-75081184 chr15:75081175-75081183 chr15:75081175-75081184 chr15:75081170-75081188 chr15:75081173-75081184
31	CHD1	chr15:75079224-75081883	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:75078570-75083275	GM18505	blood:	n/a	n/a
33	MAZ	chr15:75079154-75082852	GM12878	blood:	n/a	chr15:75082678-75082687 chr15:75081867-75081877
34	BCLAF1	chr15:75078912-75083306	GM12878	blood:	n/a	chr15:75081349-75081362 chr15:75080342-75080351
35	NFIC	chr15:75079556-75080702	GM12878	blood:	n/a	n/a
36	BCL11A	chr15:75080681-75081558	GM12878	blood:	n/a	chr15:75081349-75081362
37	POLR2A	chr15:75079708-75080688	K562	blood:	n/a	n/a
38	ELF1	chr15:75079654-75081879	GM12878	blood:	n/a	chr15:75081109-75081120 chr15:75081109-75081120 chr15:75080344-75080357 chr15:75079925-75079938 chr15:75081110-75081119
39	MTA3	chr15:75078545-75083429	GM12878	blood:	n/a	n/a
40	RELA	chr15:75079339-75081560	GM12891	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
41	MEF2C	chr15:75079616-75080791	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:75078927-75082956	Raji	blood:	n/a	n/a
43	EBF1	chr15:75078911-75082061	GM12878	blood:	n/a	chr15:75079866-75079877
44	POLR2A	chr15:75078866-75083275	HL-60	blood:	n/a	n/a
45	RELA	chr15:75079480-75083317	GM19099	blood:	n/a	chr15:75081431-75081440 chr15:75081431-75081440
46	CTCF	chr15:75079917-75080707	SK-N-SH	brain:	n/a	chr15:75080410-75080423
47	POLR2A	chr15:75078633-75084441	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr15:75079231-75083316	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:75078568-75083245	GM18951	blood:	n/a	n/a
50	PAX5	chr15:75079444-75082047	GM12878	blood:	n/a	chr15:75080342-75080351

No.	Distal block	Cell Line	Cell type
1	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
2	chr15:75079479..75082400-chr15:75103794..75106182,2	MCF-7	breast:
3	chr15:75080217..75082228-chr15:75182575..75184955,2	MCF-7	breast:
4	chr15:75078889..75080796-chr15:75108013..75111153,3	MCF-7	breast:
5	chr15:75079443..75082335-chr15:75197190..75199145,2	MCF-7	breast:
6	chr15:75078830..75080819-chr15:75135000..75137189,2	K562	blood:
7	chr15:75079215..75085047-chr15:75133215..75137478,7	MCF-7	breast:
8	chr15:75080194..75080835-chr15:75091870..75092731,2	MCF-7	breast:
9	chr15:74906678..74909061-chr15:75078128..75081929,4	MCF-7	breast:
10	chr15:75079725..75083728-chr15:75089989..75095483,10	MCF-7	breast:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000261606	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11072509	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11634474	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11636952	0.83[CEU][hapmap]
rs12441505	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442901	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591078	0.80[EUR][1000 genomes]
rs1350193	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378938	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543927	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs1869959	0.81[CEU][hapmap]
rs2071501	0.91[JPT][hapmap]
rs2168519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301249	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2472299	0.82[CEU][hapmap];0.82[CHD][hapmap];0.86[TSI][hapmap]
rs3784790	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935077	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886406	0.95[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs4886615	0.92[GIH][hapmap];0.84[MKK][hapmap]
rs4886619	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495126	0.85[GIH][hapmap]
rs6495127	0.85[GIH][hapmap]
rs7085	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162232	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7176022	0.87[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7180484	0.80[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72730503	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7497201	0.85[GIH][hapmap]
rs762551	0.82[CEU][hapmap];0.82[CHD][hapmap];0.86[TSI][hapmap]
rs8031937	0.85[GIH][hapmap]
rs8042694	0.85[GIH][hapmap]
rs9210	0.86[CEU][hapmap];0.95[GIH][hapmap];0.82[MKK][hapmap]
rs936226	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs936228	0.92[GIH][hapmap];0.81[MKK][hapmap]
rs936229	0.92[GIH][hapmap];0.81[MKK][hapmap]
rs936230	0.82[CEU][hapmap];0.85[GIH][hapmap]

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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8033381	ULK3	cis	Whole Blood	GTEx
rs8033381	NEO1	cis	parietal	SCAN
rs8033381	MPI	cis	lymphoblastoid	seeQTL
rs8033381	SCAMP2	cis	parietal	SCAN
rs8033381	COX5A	Cis_1M	lymphoblastoid	RTeQTL
rs8033381	SCAMP5	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75075600-75080800	Enhancers	Fetal Heart	heart
2	chr15:75075600-75083400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr15:75075800-75082000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75076000-75080800	Enhancers	Fetal Brain Male	brain
5	chr15:75076400-75082200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:75076400-75083200	Enhancers	Colon Smooth Muscle	Colon
7	chr15:75076400-75083400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr15:75076400-75083400	Genic enhancers	Fetal Stomach	stomach
9	chr15:75076400-75083400	Enhancers	Right Ventricle	heart
10	chr15:75076400-75084200	Enhancers	Spleen	Spleen
11	chr15:75076400-75085800	Enhancers	Left Ventricle	heart
12	chr15:75076600-75080800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:75076600-75080800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:75076600-75081000	Genic enhancers	Fetal Intestine Large	intestine
15	chr15:75076600-75082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:75076600-75082600	Genic enhancers	NHEK	skin
17	chr15:75076600-75082800	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr15:75076600-75083400	Enhancers	Right Atrium	heart
19	chr15:75076600-75083400	Enhancers	HMEC	breast
20	chr15:75076600-75084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:75076800-75081600	Genic enhancers	Fetal Intestine Small	intestine
22	chr15:75076800-75083200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:75077200-75081000	Genic enhancers	K562	blood
24	chr15:75077200-75082200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr15:75077600-75081800	Genic enhancers	Lung	lung
26	chr15:75077600-75083000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:75077600-75083000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:75077600-75083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:75077800-75081200	Enhancers	Brain Substantia Nigra	brain
30	chr15:75077800-75082200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:75077800-75084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:75078000-75081200	Enhancers	Liver	Liver
34	chr15:75078000-75081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:75078000-75082000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr15:75078000-75083400	Enhancers	Placenta	Placenta
37	chr15:75078000-75083400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr15:75078000-75083600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr15:75078000-75084200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr15:75078000-75085600	Enhancers	NHDF-Ad	bronchial
41	chr15:75078200-75081600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:75078200-75081600	Weak transcription	HUVEC	blood vessel
43	chr15:75078200-75082400	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:75078200-75083200	Enhancers	Gastric	stomach
45	chr15:75078200-75083400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:75078200-75083600	Enhancers	Small Intestine	intestine
47	chr15:75078200-75084400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr15:75078400-75081000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:75078400-75081200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:75078400-75082000	Enhancers	Brain Anterior Caudate	brain

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