Variant report

Variant	rs9591324
Chromosome Location	chr13:50796866-50796867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr13:50796637-50796977	GM12878	blood:	n/a	n/a
2	CTCF	chr13:50796856-50796958	Gliobla	brain:	n/a	n/a
3	ATF2	chr13:50796583-50797066	GM12878	blood:	n/a	n/a
4	IRF4	chr13:50796630-50797085	GM12878	blood:	n/a	n/a
5	NFIC	chr13:50796452-50797063	GM12878	blood:	n/a	n/a
6	CEBPB	chr13:50796698-50796885	H1-hESC	embryonic stem cell:	n/a	chr13:50796802-50796815 chr13:50796799-50796816
7	TCF7L2	chr13:50796737-50797729	PANC-1	pancreas:	n/a	n/a
8	NFIC	chr13:50796512-50797031	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:50796686-50797132	U87	brain:	n/a	n/a
10	CEBPB	chr13:50796652-50796964	HepG2	liver:	n/a	chr13:50796802-50796815 chr13:50796799-50796816
11	FOS	chr13:50796586-50797173	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr13:50796695-50796986	GM12878	blood:	n/a	n/a
13	STAT3	chr13:50796624-50797088	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr13:50796564-50796955	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr13:50796682-50796940	A549	lung:	n/a	chr13:50796802-50796815 chr13:50796799-50796816
16	BCLAF1	chr13:50796700-50797064	GM12878	blood:	n/a	n/a
17	BCL3	chr13:50796618-50796999	GM12878	blood:	n/a	n/a
18	PML	chr13:50796597-50797123	GM12878	blood:	n/a	n/a
19	FOS	chr13:50796597-50797156	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr13:50796710-50797000	U87	brain:	n/a	n/a
21	POLR2A	chr13:50796306-50797950	MCF10A-Er-Src	breast:	n/a	n/a
22	BATF	chr13:50796612-50797116	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:50796865-50797555	PANC-1	pancreas:	n/a	n/a
24	BCL11A	chr13:50796618-50797040	GM12878	blood:	n/a	n/a
25	FOXM1	chr13:50796585-50797143	GM12878	blood:	n/a	n/a
26	POLR2A	chr13:50796850-50797537	PANC-1	pancreas:	n/a	n/a
27	MYC	chr13:50796653-50797360	NB4	blood:	n/a	n/a
28	STAT3	chr13:50796686-50797297	MCF10A-Er-Src	breast:	n/a	n/a
29	BATF	chr13:50796683-50796904	GM12878	blood:	n/a	n/a
30	CEBPB	chr13:50796637-50797209	IMR90	lung:	n/a	chr13:50797070-50797083 chr13:50796802-50796815 chr13:50796799-50796816 chr13:50797072-50797083
31	CEBPB	chr13:50796677-50796977	K562	blood:	n/a	chr13:50796802-50796815 chr13:50796799-50796816
32	CREB1	chr13:50796633-50797126	GM12878	blood:	n/a	n/a
33	STAT3	chr13:50796635-50797036	MCF10A-Er-Src	breast:	n/a	n/a
34	RUNX3	chr13:50796585-50797111	GM12878	blood:	n/a	n/a
35	RUNX3	chr13:50796535-50797099	GM12878	blood:	n/a	n/a
36	ATF2	chr13:50796575-50797074	GM12878	blood:	n/a	n/a
37	FOXM1	chr13:50796563-50797034	GM12878	blood:	n/a	n/a
38	CREB1	chr13:50796629-50797081	GM12878	blood:	n/a	n/a
39	STAT3	chr13:50796640-50797246	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr13:50796552-50797197	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr13:50796610-50797309	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr13:50796760-50796910	HMEC	breast:	n/a	n/a
43	MAX	chr13:50796643-50797272	NB4	blood:	n/a	n/a
44	MTA3	chr13:50796621-50797096	GM12878	blood:	n/a	n/a
45	POLR2A	chr13:50796861-50796995	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr13:50796657-50797373	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr13:50796554-50797229	MCF10A-Er-Src	breast:	n/a	n/a
48	CEBPB	chr13:50796459-50797065	GM12878	blood:	n/a	chr13:50796802-50796815 chr13:50796799-50796816
49	POLR2A	chr13:50796710-50797095	U87	brain:	n/a	n/a
50	STAT5A	chr13:50796615-50796986	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50796845-50796895	HPAEpiC	pulmonary alveolar:	n/a
2	chr13:50796845-50796895	A549	lung:	n/a
3	chr13:50796845-50796895	Hepatocyte	liver:	n/a
4	chr13:50796845-50796895	PANC-1	pancreas:	n/a
5	chr13:50796845-50796895	HEK293	kidney:	embryo
6	chr13:50796845-50796895	NHBE	bronchial:	n/a
7	chr13:50796845-50796895	PrEC	prostate:	n/a
8	chr13:50796845-50796895	HCPEpiC	choroid plexus:	n/a
9	chr13:50796845-50796895	PFSK-1	brain:	n/a
10	chr13:50796845-50796895	HRE	kidney:	n/a
11	chr13:50796845-50796895	HCT-116	colon:	n/a
12	chr13:50796845-50796895	HCM	heart:	n/a
13	chr13:50796845-50796895	ECC-1	luminal epithelium:	n/a
14	chr13:50796845-50796895	AG09319	gingival:	n/a
15	chr13:50796845-50796895	LNCaP	prostate:	n/a
16	chr13:50796845-50796895	SKMC	muscle:	n/a
17	chr13:50796845-50796895	BE2_C	brain:	n/a
18	chr13:50796845-50796895	MCF10A-Er-Src	breast:	n/a
19	chr13:50796845-50796895	AG04449	skin:	fetal
20	chr13:50796845-50796895	GM12892	blood:	n/a
21	chr13:50796845-50796895	HepG2	liver:	n/a
22	chr13:50796845-50796895	CMK	blood:	n/a
23	chr13:50796845-50796895	ovcar-3	ovarian:	n/a
24	chr13:50796845-50796895	GM19239	blood:	n/a
25	chr13:50796845-50796895	HEEpiC	esophagus:	n/a
26	chr13:50796845-50796895	H1-hESC	embryonic stem cell:	embryo
27	chr13:50796845-50796895	IMR90	lung:	fetal
28	chr13:50796845-50796895	Hela-S3	cervix:	n/a
29	chr13:50796845-50796895	T-47D	breast:	n/a
30	chr13:50796845-50796895	SK-N-SH	brain:	n/a
31	chr13:50796845-50796895	Jurkat	blood:	n/a
32	chr13:50796845-50796895	NHDF-neo	bronchial:	n/a
33	chr13:50796845-50796895	HRCEpiC	kidney:	n/a
34	chr13:50796845-50796895	Caco-2	colon:	n/a
35	chr13:50796845-50796895	GM06990	blood:	n/a
36	chr13:50796845-50796895	HMEC	breast:	n/a
37	chr13:50796845-50796895	AG09309	skin:	n/a
38	chr13:50796845-50796895	SK-N-MC	brain:	n/a
39	chr13:50796845-50796895	HCF	heart:	n/a
40	chr13:50796845-50796895	NT2-D1	testis:	n/a
41	chr13:50796845-50796895	NH-A	brain:	n/a
42	chr13:50796845-50796895	SAEC	small airway:	n/a
43	chr13:50796845-50796895	AoSMC	blood vessel:	n/a
44	chr13:50796845-50796895	NB4	blood:	n/a
45	chr13:50796845-50796895	RPTEC	kidney:	n/a
46	chr13:50796845-50796895	HL-60	blood:	n/a
47	chr13:50796845-50796895	GM12891	blood:	n/a
48	chr13:50796845-50796895	GM12878	blood:	n/a
49	chr13:50796845-50796895	SK-N-SH_RA	brain:	n/a
50	chr13:50796845-50796895	AG04450	lung:	fetal

No data

Variant related genes	Relation type
DLEU1	TF binding region
DLEU1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9591319	1.00[AMR][1000 genomes]
rs9596217	1.00[AMR][1000 genomes]
rs9596227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50790400-50799400	Weak transcription	HepG2	liver
2	chr13:50793600-50799200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:50795400-50799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50795800-50797800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:50795800-50800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:50795800-50801000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:50796000-50797400	Enhancers	Gastric	stomach
8	chr13:50796000-50797600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr13:50796200-50797000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr13:50796200-50797400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr13:50796200-50797600	Flanking Active TSS	HSMMtube	muscle
12	chr13:50796200-50804000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:50796400-50797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:50796400-50797400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:50796600-50797000	Active TSS	Brain Substantia Nigra	brain
16	chr13:50796600-50797000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr13:50796600-50797000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr13:50796600-50797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:50796600-50797200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:50796600-50797200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:50796600-50797200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr13:50796600-50797400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr13:50796600-50797400	Flanking Active TSS	Osteobl	bone
24	chr13:50796600-50797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:50796600-50797600	Enhancers	Liver	Liver
26	chr13:50796600-50797600	Enhancers	Stomach Mucosa	stomach
27	chr13:50796800-50797000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:50796800-50797000	Active TSS	Brain Hippocampus Middle	brain
29	chr13:50796800-50797000	Enhancers	Colonic Mucosa	Colon
30	chr13:50796800-50797000	Active TSS	Duodenum Mucosa	Duodenum
31	chr13:50796800-50797200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:50796800-50797200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:50796800-50797200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:50796800-50797200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:50796800-50797200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:50796800-50797200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr13:50796800-50797200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr13:50796800-50797200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr13:50796800-50797200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr13:50796800-50797200	Active TSS	Fetal Brain Male	brain
41	chr13:50796800-50797200	Enhancers	Fetal Muscle Trunk	muscle
42	chr13:50796800-50797200	Enhancers	Fetal Stomach	stomach
43	chr13:50796800-50797200	Active TSS	Rectal Smooth Muscle	rectum
44	chr13:50796800-50797200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
45	chr13:50796800-50797200	Flanking Active TSS	HMEC	breast
46	chr13:50796800-50797200	Flanking Active TSS	HSMM	muscle
47	chr13:50796800-50797400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50796800-50797400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr13:50796800-50797400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr13:50796800-50797400	Enhancers	Brain Germinal Matrix	brain

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