Variant report

Variant	rs74087066
Chromosome Location	chr13:52702760-52702761
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	TAF1	chr13:52702558-52702917	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr13:52702640-52702790	HMF	breast:	n/a	n/a
3	ZBTB7A	chr13:52702367-52703532	ECC-1	luminal epithelium:	n/a	n/a
4	CREB1	chr13:52701986-52702848	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:52702660-52702810	HRPEpiC	eye:	n/a	n/a
6	SIN3A	chr13:52702686-52703073	GM12878	blood:	n/a	n/a
7	ELF1	chr13:52702759-52703453	GM12878	blood:	n/a	n/a
8	CTCF	chr13:52702700-52702850	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr13:52702640-52702790	HVMF	connective:	n/a	n/a
10	SIN3AK20	chr13:52702693-52703425	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr13:52702510-52703468	K562	blood:	n/a	chr13:52702985-52702994
12	MAX	chr13:52701862-52703543	NB4	blood:	n/a	chr13:52702985-52702994
13	MAX	chr13:52702754-52703474	ECC-1	luminal epithelium:	n/a	chr13:52702985-52702994
14	CTCF	chr13:52702620-52702770	HUVEC	blood vessel:	n/a	n/a
15	MXI1	chr13:52701908-52703423	HepG2	liver:	n/a	chr13:52702985-52703000 chr13:52702983-52702998
16	CTCF	chr13:52702720-52702870	AoAF	blood vessel:	n/a	n/a
17	MAX	chr13:52701670-52703501	ECC-1	luminal epithelium:	n/a	chr13:52702985-52702994
18	CTCF	chr13:52702700-52702850	AG10803	skin:	n/a	n/a
19	JUND	chr13:52702689-52702889	H1-hESC	embryonic stem cell:	n/a	n/a
20	EGR1	chr13:52702742-52703397	ECC-1	luminal epithelium:	n/a	chr13:52703050-52703064 chr13:52703013-52703027
21	CTCF	chr13:52702720-52702870	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr13:52702749-52703464	ECC-1	luminal epithelium:	n/a	n/a
23	MAZ	chr13:52701717-52703491	IMR90	lung:	n/a	chr13:52702985-52702994
24	MXI1	chr13:52701549-52703476	IMR90	lung:	n/a	chr13:52702985-52703000 chr13:52702983-52702998
25	SIN3AK20	chr13:52702759-52703616	MCF-7	breast:	n/a	n/a
26	CTCF	chr13:52702760-52702910	AG09319	gingival:	n/a	n/a
27	SIN3A	chr13:52701864-52703495	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr13:52701361-52703701	SK-N-SH	brain:	n/a	chr13:52702753-52702767 chr13:52702727-52702737
29	MAX	chr13:52701965-52702785	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr13:52701596-52703641	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr13:52702760-52702910	NHDF-neo	bronchial:	n/a	n/a
32	SIN3AK20	chr13:52702701-52703391	PANC-1	pancreas:	n/a	n/a
33	ZBTB7A	chr13:52702504-52703516	ECC-1	luminal epithelium:	n/a	n/a
34	CTBP2	chr13:52702747-52703542	H1-hESC	embryonic stem cell:	n/a	n/a
35	SMC3	chr13:52701508-52704032	SK-N-SH	brain:	n/a	n/a
36	MAX	chr13:52702704-52703552	A549	lung:	n/a	chr13:52702985-52702994
37	CTCF	chr13:52702720-52702870	GM12870	blood:	n/a	n/a
38	ZBTB7A	chr13:52702746-52702940	K562	blood:	n/a	n/a
39	MYC	chr13:52701837-52703419	NB4	blood:	n/a	chr13:52702985-52702994
40	CTCF	chr13:52702760-52702910	HCPEpiC	choroid plexus:	n/a	n/a
41	SIN3AK20	chr13:52702659-52702834	HepG2	liver:	n/a	n/a
42	POLR2A	chr13:52702740-52702863	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52469831..52471115-chr13:52701846..52702769,5	MCF-7	breast:
2	chr13:52701771..52705558-chr13:52767896..52769871,3	MCF-7	breast:
3	chr13:52376169..52378547-chr13:52701514..52703656,2	MCF-7	breast:
4	chr13:52584477..52586943-chr13:52701489..52703372,3	K562	blood:
5	chr13:52584477..52586900-chr13:52700506..52703372,3	K562	blood:

Variant related genes	Relation type
NEK5	TF binding region
ENSG00000253710	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000243406	Chromatin interaction
ENSG00000123191	Chromatin interaction
ENSG00000102796	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55896522	1.00[AMR][1000 genomes]
rs56263093	1.00[AMR][1000 genomes]
rs74087056	1.00[AMR][1000 genomes]
rs74087069	1.00[AMR][1000 genomes]
rs74087072	1.00[AMR][1000 genomes]
rs74087090	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	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	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52701800-52702800	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr13:52701800-52702800	Bivalent Enhancer	Dnd41	blood
3	chr13:52701800-52702800	Flanking Active TSS	K562	blood
4	chr13:52701800-52703000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:52701800-52703000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:52701800-52703000	Flanking Active TSS	NHEK	skin
7	chr13:52701800-52703000	Flanking Active TSS	Osteobl	bone
8	chr13:52701800-52703600	Active TSS	Aorta	Aorta
9	chr13:52701800-52703600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr13:52701800-52703600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr13:52702000-52702800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr13:52702000-52702800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:52702000-52702800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr13:52702000-52702800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:52702000-52702800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr13:52702000-52702800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr13:52702000-52702800	Flanking Active TSS	Colonic Mucosa	Colon
18	chr13:52702000-52702800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:52702000-52702800	Enhancers	Spleen	Spleen
20	chr13:52702000-52703000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr13:52702000-52703000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr13:52702000-52703000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr13:52702000-52703000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr13:52702000-52703000	Flanking Active TSS	HUVEC	blood vessel
25	chr13:52702000-52703000	Flanking Active TSS	NH-A	brain
26	chr13:52702000-52703400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:52702000-52703400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:52702000-52703400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr13:52702000-52703400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:52702000-52703400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr13:52702000-52703400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr13:52702000-52703400	Active TSS	Brain Substantia Nigra	brain
33	chr13:52702000-52703400	Active TSS	Right Atrium	heart
34	chr13:52702000-52703400	Active TSS	Right Ventricle	heart
35	chr13:52702000-52703600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:52702000-52703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:52702000-52703600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr13:52702000-52703600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr13:52702000-52703600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr13:52702000-52703600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr13:52702000-52703600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr13:52702000-52703600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:52702000-52703600	Flanking Active TSS	Liver	Liver
44	chr13:52702000-52703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:52702000-52703600	Active TSS	Fetal Kidney	kidney
46	chr13:52702000-52703600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr13:52702000-52703600	Active TSS	Psoas Muscle	Psoas
48	chr13:52702000-52703600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr13:52702000-52703600	Active TSS	A549	lung
50	chr13:52702000-52703600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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