Variant report

Variant	rs73184378
Chromosome Location	chr13:52733345-52733346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:52733337-52733829	GM12878	blood:	n/a	n/a
2	MYBL2	chr13:52733340-52734238	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr13:52733213-52733877	K562	blood:	n/a	n/a
4	UBTF	chr13:52733102-52733962	K562	blood:	n/a	n/a
5	POLR2A	chr13:52733286-52734086	HUVEC	blood vessel:	n/a	n/a
6	RCOR1	chr13:52732775-52733821	GM12878	blood:	n/a	n/a
7	MAX	chr13:52733105-52734312	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr13:52733329-52733926	HUVEC	blood vessel:	n/a	n/a
9	NFIC	chr13:52732915-52733450	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:52733303-52733863	GM12892	blood:	n/a	n/a
11	PAX5	chr13:52733335-52733804	GM12892	blood:	n/a	chr13:52733564-52733573 chr13:52733566-52733575
12	POLR2A	chr13:52732984-52734139	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr13:52733133-52733914	MCF-7	breast:	n/a	n/a
14	TAF1	chr13:52732922-52733927	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr13:52733313-52733898	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr13:52733254-52733856	GM15510	blood:	n/a	n/a
17	MAFK	chr13:52733202-52733347	K562	blood:	n/a	n/a
18	MXI1	chr13:52732885-52734068	GM12878	blood:	n/a	n/a
19	EBF1	chr13:52733082-52733362	GM12878	blood:	n/a	n/a
20	MAFK	chr13:52733157-52733710	HepG2	liver:	n/a	n/a
21	PAX5	chr13:52733323-52733592	GM12878	blood:	n/a	chr13:52733564-52733573 chr13:52733566-52733575
22	GABPA	chr13:52733263-52733924	K562	blood:	n/a	n/a
23	BCLAF1	chr13:52732932-52733442	GM12878	blood:	n/a	n/a
24	POLR2A	chr13:52732971-52734089	Hela-S3	cervix:	n/a	n/a
25	E2F6	chr13:52733246-52734133	K562	blood:	n/a	n/a
26	BHLHE40	chr13:52733132-52734017	K562	blood:	n/a	n/a
27	POLR2A	chr13:52733344-52733849	K562	blood:	n/a	n/a
28	POLR2A	chr13:52732930-52733900	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr13:52733011-52734033	Hela-S3	cervix:	n/a	n/a
30	E2F6	chr13:52733091-52734548	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr13:52732859-52734076	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr13:52732970-52734237	MCF10A-Er-Src	breast:	n/a	n/a
33	WRNIP1	chr13:52733339-52733475	GM12878	blood:	n/a	n/a
34	TCF7L2	chr13:52733086-52734068	Hela-S3	cervix:	n/a	n/a
35	MYC	chr13:52732634-52734062	NB4	blood:	n/a	n/a
36	KAP1	chr13:52733319-52734204	HEK293	kidney:	n/a	n/a
37	SIN3A	chr13:52732989-52734210	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFK	chr13:52732993-52733497	IMR90	lung:	n/a	n/a
39	POLR2A	chr13:52733052-52733890	K562	blood:	n/a	n/a
40	HEY1	chr13:52732939-52733347	HepG2	liver:	n/a	n/a
41	ELF1	chr13:52733297-52733976	K562	blood:	n/a	n/a
42	POLR2A	chr13:52733285-52733953	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr13:52733015-52733862	K562	blood:	n/a	n/a
44	POLR2A	chr13:52732918-52734186	SK-N-MC	brain:	n/a	n/a
45	MXI1	chr13:52733340-52734161	HepG2	liver:	n/a	n/a
46	TBP	chr13:52733097-52733975	H1-hESC	embryonic stem cell:	n/a	n/a
47	HA-E2F1	chr13:52733104-52734181	MCF-7	breast:	n/a	n/a
48	TCF7L2	chr13:52733187-52733596	PANC-1	pancreas:	n/a	n/a
49	E2F6	chr13:52733039-52734363	K562	blood:	n/a	n/a
50	MAFK	chr13:52733170-52733363	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52725842..52728742-chr13:52731896..52733455,2	MCF-7	breast:
2	chr13:52729535..52732308-chr13:52732328..52734703,4	K562	blood:

No data

Variant related genes	Relation type
NEK3	TF binding region
ENSG00000136098	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57041737	1.00[AFR][1000 genomes]
rs57807149	1.00[AFR][1000 genomes]
rs7319489	1.00[AFR][1000 genomes]
rs73484013	0.86[AFR][1000 genomes]
rs73484018	0.86[AFR][1000 genomes]
rs73484035	1.00[AFR][1000 genomes]
rs73484037	1.00[AFR][1000 genomes]
rs73484050	1.00[AFR][1000 genomes]
rs73484087	1.00[AFR][1000 genomes]
rs73486119	1.00[AFR][1000 genomes]
rs73486132	1.00[AFR][1000 genomes]
rs73486169	1.00[AFR][1000 genomes]
rs73500200	1.00[AFR][1000 genomes]
rs73502322	1.00[AFR][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv3429935	chr13:52694751-52735744	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52732400-52733800	Active TSS	Stomach Mucosa	stomach
2	chr13:52732400-52734000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:52732600-52733400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:52732600-52733600	Active TSS	Colonic Mucosa	Colon
5	chr13:52732600-52733800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:52732600-52733800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:52732600-52733800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:52732600-52733800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr13:52732600-52733800	Active TSS	Fetal Stomach	stomach
10	chr13:52732600-52733800	Active TSS	Rectal Smooth Muscle	rectum
11	chr13:52732600-52733800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr13:52732600-52734000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:52732600-52734000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:52732600-52734000	Active TSS	A549	lung
15	chr13:52732600-52734000	Active TSS	NHLF	lung
16	chr13:52732600-52734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:52732600-52734200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:52732600-52734200	Active TSS	Aorta	Aorta
19	chr13:52732800-52733400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr13:52732800-52733400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr13:52732800-52733400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr13:52732800-52733400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr13:52732800-52733400	Flanking Active TSS	GM12878-XiMat	blood
24	chr13:52732800-52733400	Flanking Active TSS	HUVEC	blood vessel
25	chr13:52732800-52733600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr13:52732800-52733600	Active TSS	Primary B cells from cord blood	blood
27	chr13:52732800-52733800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:52732800-52733800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:52732800-52733800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:52732800-52733800	Active TSS	Brain Anterior Caudate	brain
31	chr13:52732800-52733800	Active TSS	Brain Substantia Nigra	brain
32	chr13:52732800-52733800	Active TSS	Fetal Kidney	kidney
33	chr13:52732800-52733800	Active TSS	Placenta	Placenta
34	chr13:52732800-52733800	Active TSS	Thymus	Thymus
35	chr13:52732800-52733800	Active TSS	K562	blood
36	chr13:52732800-52734000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:52732800-52734000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:52732800-52734000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:52732800-52734000	Active TSS	Left Ventricle	heart
40	chr13:52732800-52734000	Active TSS	Right Atrium	heart
41	chr13:52732800-52734000	Active TSS	Right Ventricle	heart
42	chr13:52732800-52734200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:52732800-52734200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:52732800-52734200	Active TSS	Fetal Brain Male	brain
45	chr13:52732800-52734200	Active TSS	Fetal Muscle Trunk	muscle
46	chr13:52732800-52734200	Active TSS	Ovary	ovary
47	chr13:52732800-52734200	Active TSS	Pancreas	Pancrea
48	chr13:52732800-52734200	Active TSS	Psoas Muscle	Psoas
49	chr13:52733000-52733400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:52733000-52733400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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