Variant report

Variant	rs7325993
Chromosome Location	chr13:50656797-50656798
allele	A/C
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	CTCF	chr13:50656760-50656910	HCPEpiC	choroid plexus:	n/a	n/a
2	MYC	chr13:50656696-50656836	GM12878	blood:	n/a	n/a
3	MYBL2	chr13:50655800-50657358	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:50654399-50657316	HepG2	liver:	n/a	n/a
5	TBP	chr13:50655922-50657070	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr13:50655531-50657127	K562	blood:	n/a	n/a
7	EGR1	chr13:50656703-50656939	K562	blood:	n/a	chr13:50656905-50656914
8	POU2F2	chr13:50655691-50657015	GM12878	blood:	n/a	chr13:50655748-50655760 chr13:50656285-50656297
9	POLR2A	chr13:50655821-50657059	SK-N-SH	brain:	n/a	n/a
10	CHD2	chr13:50655284-50656829	K562	blood:	n/a	chr13:50656294-50656304 chr13:50655742-50655752
11	RUNX3	chr13:50655488-50657036	GM12878	blood:	n/a	n/a
12	STAT1	chr13:50655652-50656944	GM12878	blood:	n/a	n/a
13	TAF1	chr13:50655016-50657089	ECC-1	luminal epithelium:	n/a	n/a
14	NFYA	chr13:50656066-50657118	Hela-S3	cervix:	n/a	n/a
15	SIN3AK20	chr13:50656310-50657120	A549	lung:	n/a	n/a
16	YY1	chr13:50656715-50656952	K562	blood:	n/a	n/a
17	POLR2A	chr13:50656634-50656934	GM12891	blood:	n/a	n/a
18	BHLHE40	chr13:50654913-50657076	GM12878	blood:	n/a	chr13:50655688-50655704 chr13:50655704-50655720
19	POLR2A	chr13:50656650-50656926	U87	brain:	n/a	n/a
20	POLR2A	chr13:50656650-50656904	U87	brain:	n/a	n/a
21	NFIC	chr13:50655934-50656990	HepG2	liver:	n/a	n/a
22	POLR2A	chr13:50655083-50657045	K562	blood:	n/a	n/a
23	HDAC2	chr13:50656506-50656929	HepG2	liver:	n/a	chr13:50656904-50656913
24	EP300	chr13:50655550-50657177	K562	blood:	n/a	chr13:50656995-50657009 chr13:50655870-50655886 chr13:50655873-50655886
25	SIN3AK20	chr13:50655171-50657097	SK-N-SH	brain:	n/a	n/a
26	STAT3	chr13:50656788-50657132	MCF10A-Er-Src	breast:	n/a	n/a
27	MAZ	chr13:50655566-50657451	IMR90	lung:	n/a	chr13:50656289-50656299 chr13:50656286-50656296
28	EBF1	chr13:50656595-50656972	GM12878	blood:	n/a	n/a
29	CEBPD	chr13:50656589-50656973	HepG2	liver:	n/a	n/a
30	MYC	chr13:50655359-50657278	K562	blood:	n/a	chr13:50656304-50656314 chr13:50656289-50656299 chr13:50656286-50656296
31	POLR2A	chr13:50656707-50656910	A549	lung:	n/a	n/a
32	CEBPB	chr13:50656093-50657398	Hela-S3	cervix:	n/a	chr13:50657130-50657141 chr13:50657131-50657140 chr13:50657129-50657142
33	POLR2A	chr13:50653973-50657240	K562	blood:	n/a	n/a
34	SETDB1	chr13:50656206-50656861	U2OS	brain:	n/a	n/a
35	GATA1	chr13:50655794-50657455	PBDE	blood:	n/a	n/a
36	SP4	chr13:50655954-50656839	H1-hESC	embryonic stem cell:	n/a	n/a
37	UBTF	chr13:50654220-50657071	K562	blood:	n/a	n/a
38	SIN3A	chr13:50654530-50657306	H1-hESC	embryonic stem cell:	n/a	chr13:50655747-50655760
39	TCF12	chr13:50654945-50656924	A549	lung:	n/a	n/a
40	POLR2A	chr13:50656788-50657003	MCF-7	breast:	n/a	n/a
41	MYC	chr13:50655667-50657023	K562	blood:	n/a	chr13:50656304-50656314 chr13:50656289-50656299 chr13:50656286-50656296
42	POLR2A	chr13:50655507-50657051	HEK293	kidney:	n/a	n/a
43	FOXM1	chr13:50655483-50657136	GM12878	blood:	n/a	n/a
44	MAX	chr13:50655909-50657069	MCF-7	breast:	n/a	chr13:50656304-50656314 chr13:50656289-50656299 chr13:50656286-50656296
45	POLR2A	chr13:50655563-50657110	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr13:50655726-50656999	HepG2	liver:	n/a	n/a
47	HEY1	chr13:50656255-50657046	K562	blood:	n/a	n/a
48	POLR2A	chr13:50654388-50657181	GM19099	blood:	n/a	n/a
49	MAX	chr13:50655553-50657415	HCT-116	colon:	n/a	chr13:50656304-50656314 chr13:50656289-50656299 chr13:50656286-50656296
50	NRF1	chr13:50656114-50656967	H1-hESC	embryonic stem cell:	n/a	chr13:50656267-50656276 chr13:50656901-50656915 chr13:50656265-50656276 chr13:50656305-50656316 chr13:50656375-50656386 chr13:50656265-50656279 chr13:50656262-50656276

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50656747-50656797	NHBE	bronchial:	n/a
2	chr13:50656747-50656797	NH-A	brain:	n/a
3	chr13:50656747-50656797	GM12891	blood:	n/a
4	chr13:50656747-50656797	MCF10A-Er-Src	breast:	n/a
5	chr13:50656747-50656797	HRE	kidney:	n/a
6	chr13:50656747-50656797	HNPCEpiC	eye:	n/a
7	chr13:50656747-50656797	U87	brain:	n/a
8	chr13:50656747-50656797	Caco-2	colon:	n/a
9	chr13:50656747-50656797	AoSMC	blood vessel:	n/a
10	chr13:50656747-50656797	SK-N-MC	brain:	n/a
11	chr13:50656747-50656797	HepG2	liver:	n/a
12	chr13:50656747-50656797	AG09309	skin:	n/a
13	chr13:50656747-50656797	HAEpiC	amniotic membrane:	n/a
14	chr13:50656747-50656797	HEEpiC	esophagus:	n/a
15	chr13:50656747-50656797	K562	blood:	n/a
16	chr13:50656747-50656797	ECC-1	luminal epithelium:	n/a
17	chr13:50656747-50656797	NT2-D1	testis:	n/a
18	chr13:50656747-50656797	BE2_C	brain:	n/a
19	chr13:50656747-50656797	PrEC	prostate:	n/a
20	chr13:50656747-50656797	HRCEpiC	kidney:	n/a
21	chr13:50656747-50656797	CMK	blood:	n/a
22	chr13:50656747-50656797	Jurkat	blood:	n/a
23	chr13:50656747-50656797	PANC-1	pancreas:	n/a
24	chr13:50656747-50656797	NB4	blood:	n/a
25	chr13:50656747-50656797	HCF	heart:	n/a
26	chr13:50656747-50656797	HL-60	blood:	n/a
27	chr13:50656747-50656797	GM19239	blood:	n/a
28	chr13:50656747-50656797	HCM	heart:	n/a
29	chr13:50656747-50656797	AG10803	skin:	n/a
30	chr13:50656747-50656797	H1-hESC	embryonic stem cell:	embryo
31	chr13:50656747-50656797	MCF-7	breast:	n/a
32	chr13:50656747-50656797	Hela-S3	cervix:	n/a
33	chr13:50656747-50656797	HCPEpiC	choroid plexus:	n/a
34	chr13:50656747-50656797	SK-N-SH	brain:	n/a
35	chr13:50656747-50656797	HPAEpiC	pulmonary alveolar:	n/a
36	chr13:50656747-50656797	GM12892	blood:	n/a
37	chr13:50656747-50656797	GM06990	blood:	n/a
38	chr13:50656747-50656797	HRPEpiC	eye:	n/a
39	chr13:50656747-50656797	LNCaP	prostate:	n/a
40	chr13:50656747-50656797	BJ	skin:	n/a
41	chr13:50656747-50656797	AG04450	lung:	fetal
42	chr13:50656747-50656797	SK-N-SH_RA	brain:	n/a
43	chr13:50656747-50656797	Hepatocyte	liver:	n/a
44	chr13:50656747-50656797	GM12878	blood:	n/a
45	chr13:50656747-50656797	IMR90	lung:	fetal
46	chr13:50656747-50656797	AG04449	skin:	fetal
47	chr13:50656747-50656797	T-47D	breast:	n/a
48	chr13:50656747-50656797	SAEC	small airway:	n/a
49	chr13:50656747-50656797	HIPEpiC	eye:	n/a
50	chr13:50656747-50656797	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50655118..50657080-chr13:51484545..51486295,2	K562	blood:
2	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
3	chr13:50365172..50367900-chr13:50655465..50657230,2	K562	blood:
4	chr13:50569852..50573038-chr13:50651628..50659276,11	K562	blood:
5	chr13:50569748..50573186-chr13:50654848..50657793,4	MCF-7	breast:
6	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
7	chr13:50569462..50575212-chr13:50651363..50657415,15	K562	blood:
8	chr13:50654073..50663597-chr13:50696674..50702768,25	MCF-7	breast:
9	chr13:50654380..50657403-chr13:51482897..51486295,4	K562	blood:
10	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:

Variant related genes	Relation type
DLEU2	TF binding region
DLEU2	CpG island
ENSG00000231607	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1043208	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10492746	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12100048	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12583615	0.86[ASN][1000 genomes]
rs12583637	0.86[ASN][1000 genomes]
rs12583652	0.86[ASN][1000 genomes]
rs12583823	0.81[ASN][1000 genomes]
rs12584069	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12585753	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1323451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17073655	0.81[ASN][1000 genomes]
rs17073682	0.86[ASN][1000 genomes]
rs17073724	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17073826	0.88[EUR][1000 genomes]
rs17073834	0.86[EUR][1000 genomes]
rs17471092	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2066540	0.86[ASN][1000 genomes]
rs2066546	0.86[ASN][1000 genomes]
rs2066547	0.86[ASN][1000 genomes]
rs2066552	0.86[ASN][1000 genomes]
rs2066553	0.86[ASN][1000 genomes]
rs2066559	0.86[ASN][1000 genomes]
rs2066562	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2066565	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2066566	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2177313	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2407881	0.81[ASN][1000 genomes]
rs2407882	0.81[ASN][1000 genomes]
rs57230741	0.81[ASN][1000 genomes]
rs59931782	0.81[ASN][1000 genomes]
rs60583460	0.86[ASN][1000 genomes]
rs60926548	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61960454	0.81[ASN][1000 genomes]
rs61960455	0.81[ASN][1000 genomes]
rs61960457	0.81[ASN][1000 genomes]
rs61961261	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61961263	0.81[ASN][1000 genomes]
rs61961294	0.86[ASN][1000 genomes]
rs61961298	0.86[ASN][1000 genomes]
rs61961299	0.86[ASN][1000 genomes]
rs61961301	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61961302	0.86[ASN][1000 genomes]
rs61961303	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61961304	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961305	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961306	0.84[EUR][1000 genomes]
rs61961323	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961324	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961325	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61961328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61962359	0.88[EUR][1000 genomes]
rs6561571	0.81[ASN][1000 genomes]
rs6561572	0.81[ASN][1000 genomes]
rs6561575	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561576	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66559968	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66756338	0.86[ASN][1000 genomes]
rs7140070	0.81[EUR][1000 genomes]
rs7319351	0.81[ASN][1000 genomes]
rs73196731	0.86[ASN][1000 genomes]
rs73196734	0.86[ASN][1000 genomes]
rs73196744	0.81[ASN][1000 genomes]
rs73196768	0.86[EUR][1000 genomes]
rs7331247	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7334063	0.86[ASN][1000 genomes]
rs7336477	0.81[ASN][1000 genomes]
rs7336927	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7339181	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs790944	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7981648	0.86[EUR][1000 genomes]
rs7982125	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7984332	0.86[ASN][1000 genomes]
rs7984907	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7986364	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7986432	0.81[ASN][1000 genomes]
rs7991744	0.89[EUR][1000 genomes]
rs7992903	0.81[ASN][1000 genomes]
rs7994224	0.81[ASN][1000 genomes]
rs7997305	0.81[ASN][1000 genomes]
rs7997402	0.81[ASN][1000 genomes]
rs7997638	0.86[ASN][1000 genomes]
rs7998223	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7998391	0.86[ASN][1000 genomes]
rs9596240	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7325993	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs7325993	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50648400-50657400	Active TSS	GM12878-XiMat	blood
2	chr13:50651600-50656800	Active TSS	Fetal Thymus	thymus
3	chr13:50651600-50657200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:50651800-50658200	Active TSS	HMEC	breast
5	chr13:50651800-50659600	Active TSS	K562	blood
6	chr13:50652200-50658000	Active TSS	HSMMtube	muscle
7	chr13:50652400-50656800	Active TSS	Brain Anterior Caudate	brain
8	chr13:50652400-50657200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:50652400-50657200	Active TSS	Aorta	Aorta
10	chr13:50652400-50657400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:50652400-50657400	Active TSS	Psoas Muscle	Psoas
12	chr13:50652400-50657600	Active TSS	Thymus	Thymus
13	chr13:50652400-50658000	Active TSS	Hela-S3	cervix
14	chr13:50652600-50657200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:50652600-50657400	Active TSS	HSMM	muscle
16	chr13:50652600-50657800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:50652600-50657800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr13:50652800-50657800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:50652800-50657800	Active TSS	NHDF-Ad	bronchial
20	chr13:50652800-50658200	Active TSS	A549	lung
21	chr13:50653000-50657400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:50653000-50657800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:50653000-50658200	Active TSS	Fetal Intestine Large	intestine
24	chr13:50653000-50658200	Active TSS	NH-A	brain
25	chr13:50653200-50657200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:50653200-50657200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:50653200-50657800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:50653200-50657800	Active TSS	Fetal Heart	heart
29	chr13:50653200-50658000	Active TSS	NHLF	lung
30	chr13:50653400-50657000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:50653400-50657000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr13:50653400-50657000	Active TSS	Osteobl	bone
33	chr13:50653400-50657400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:50653400-50657400	Active TSS	Right Atrium	heart
35	chr13:50653400-50658000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:50653600-50656800	Active TSS	Brain Substantia Nigra	brain
37	chr13:50653600-50657000	Active TSS	Fetal Kidney	kidney
38	chr13:50653600-50657000	Active TSS	Fetal Lung	lung
39	chr13:50653600-50657000	Active TSS	Small Intestine	intestine
40	chr13:50653600-50657400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr13:50653600-50657400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr13:50653600-50657400	Active TSS	Fetal Muscle Trunk	muscle
43	chr13:50653600-50657800	Active TSS	Fetal Intestine Small	intestine
44	chr13:50653600-50658000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:50653800-50657400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr13:50653800-50657600	Active TSS	Fetal Stomach	stomach
47	chr13:50653800-50657800	Active TSS	NHEK	skin
48	chr13:50653800-50658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr13:50654000-50656800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr13:50654000-50657200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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