Variant report

Variant	rs72730503
Chromosome Location	chr15:75086386-75086387
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	POLR2A	chr15:75086144-75088068	GM12892	blood:	n/a	n/a
2	MXI1	chr15:75085852-75086395	IMR90	lung:	n/a	n/a
3	POLR2A	chr15:75083936-75087476	GM12878	blood:	n/a	n/a
4	ELF1	chr15:75086008-75086419	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:75086282-75086404	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75085569-75086434	HL-60	blood:	n/a	n/a
7	POLR2A	chr15:75086372-75086895	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75085754..75088425-chr15:75092010..75094083,2	MCF-7	breast:
2	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
3	chr15:75070332..75070925-chr15:75086102..75086731,2	MCF-7	breast:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000261606	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11072509	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634474	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12441505	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442901	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1350193	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378938	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543927	0.83[EUR][1000 genomes]
rs2168519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301249	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784790	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3935077	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886406	0.80[EUR][1000 genomes]
rs4886619	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886629	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7085	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162232	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7176022	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7180484	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8033381	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs936226	0.95[EUR][1000 genomes];0.80[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	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
3	esv3447703	chr15:75086381-75086600	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72730503	ULK3	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
3	chr15:75080800-75088600	Enhancers	Stomach Mucosa	stomach
4	chr15:75081200-75091400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:75081800-75087600	Enhancers	Brain Substantia Nigra	brain
6	chr15:75081800-75092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:75081800-75092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:75082400-75088000	Genic enhancers	Fetal Intestine Small	intestine
10	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
11	chr15:75082600-75088400	Genic enhancers	Fetal Thymus	thymus
12	chr15:75082600-75090400	Weak transcription	HepG2	liver
13	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:75082800-75086800	Weak transcription	Brain Germinal Matrix	brain
15	chr15:75083000-75087200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:75083000-75089800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:75083000-75090400	Weak transcription	Dnd41	blood
18	chr15:75083000-75092000	Weak transcription	Hela-S3	cervix
19	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
20	chr15:75083200-75086400	Enhancers	NH-A	brain
21	chr15:75083200-75086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:75083200-75090400	Weak transcription	Fetal Brain Female	brain
23	chr15:75083200-75091800	Weak transcription	A549	lung
24	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:75083400-75086800	Weak transcription	K562	blood
27	chr15:75083400-75090600	Weak transcription	Fetal Lung	lung
28	chr15:75083800-75086400	Enhancers	Placenta	Placenta
29	chr15:75083800-75087000	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr15:75083800-75087800	Enhancers	Brain Anterior Caudate	brain
31	chr15:75083800-75091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:75084000-75086400	Genic enhancers	Thymus	Thymus
33	chr15:75084000-75087600	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:75084200-75086400	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:75084200-75086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:75084200-75087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:75084200-75087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:75084200-75087800	Enhancers	Esophagus	oesophagus
39	chr15:75084400-75087400	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr15:75084400-75088000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:75084400-75093200	Genic enhancers	Primary B cells from cord blood	blood
42	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
43	chr15:75084600-75086400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr15:75084600-75087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:75084800-75087000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:75084800-75091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:75085200-75087200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:75085200-75090600	Weak transcription	Psoas Muscle	Psoas
49	chr15:75085200-75091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:75085400-75086400	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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