Variant report

Variant	rs142791464
Chromosome Location	chr5:68629051-68629052
allele	C/T
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	FOXA2	chr5:68628445-68629119	A549	lung:	n/a	n/a
2	USF1	chr5:68628239-68629064	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
3	E2F6	chr5:68628224-68629174	A549	lung:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
4	MAX	chr5:68628283-68629082	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
5	POLR2A	chr5:68628244-68629322	MCF-7	breast:	n/a	n/a
6	MAX	chr5:68628209-68629066	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
7	USF1	chr5:68628247-68629051	ECC-1	luminal epithelium:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
8	EGR1	chr5:68628206-68629134	HCT-116	colon:	n/a	chr5:68628661-68628671 chr5:68628659-68628673 chr5:68628610-68628619 chr5:68628615-68628624 chr5:68628659-68628672
9	PML	chr5:68628005-68629115	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:68628204-68629068	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr5:68628220-68629123	A549	lung:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
12	CEBPB	chr5:68628514-68629072	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:68628244-68629067	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr5:68628212-68629071	MCF-7	breast:	n/a	n/a
15	MAX	chr5:68628269-68629104	MCF-7	breast:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
16	MXI1	chr5:68628033-68629198	SK-N-SH	brain:	n/a	chr5:68628652-68628661
17	FOXA2	chr5:68628455-68629124	A549	lung:	n/a	n/a
18	MYC	chr5:68628402-68629058	A549	lung:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
19	GABPA	chr5:68628158-68629146	MCF-7	breast:	n/a	chr5:68628614-68628625 chr5:68628611-68628625
20	MAX	chr5:68628191-68629131	ECC-1	luminal epithelium:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
21	POLR2A	chr5:68628347-68629098	K562	blood:	n/a	n/a
22	EGR1	chr5:68628351-68629075	MCF-7	breast:	n/a	chr5:68628661-68628671 chr5:68628659-68628673 chr5:68628610-68628619 chr5:68628615-68628624 chr5:68628659-68628672
23	USF1	chr5:68628305-68629079	HCT-116	colon:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
24	JUN	chr5:68628327-68629101	K562	blood:	n/a	n/a
25	TCF12	chr5:68628317-68629073	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr5:68628289-68629085	K562	blood:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
27	HCFC1	chr5:68627600-68629135	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:68628214-68629063	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:68628257-68629433	HepG2	liver:	n/a	n/a
30	E2F6	chr5:68628384-68629073	H1-hESC	embryonic stem cell:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
31	MAX	chr5:68628235-68629125	HCT-116	colon:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
32	GABPA	chr5:68628321-68629068	MCF-7	breast:	n/a	chr5:68628614-68628625 chr5:68628611-68628625
33	SIN3AK20	chr5:68628199-68629072	MCF-7	breast:	n/a	n/a
34	MAX	chr5:68628206-68629137	A549	lung:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
35	TCF12	chr5:68628376-68629087	ECC-1	luminal epithelium:	n/a	n/a
36	RUNX3	chr5:68628374-68629061	GM12878	blood:	n/a	n/a
37	MAX	chr5:68628342-68629062	MCF-7	breast:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
38	TCF12	chr5:68628197-68629078	A549	lung:	n/a	n/a
39	CBX3	chr5:68628408-68629095	K562	blood:	n/a	n/a
40	EGR1	chr5:68628125-68629132	HCT-116	colon:	n/a	chr5:68628661-68628671 chr5:68628659-68628673 chr5:68628610-68628619 chr5:68628615-68628624 chr5:68628659-68628672
41	MAX	chr5:68628182-68629126	HCT-116	colon:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660

No.	Distal block	Cell Line	Cell type
1	chr5:68628802..68630677-chr5:68662896..68664873,2	K562	blood:
2	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
3	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
4	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
5	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:
6	chr5:68628511..68630857-chr5:68714273..68716319,2	MCF-7	breast:
7	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:

Variant related genes	Relation type
CHCHD2P2	TF binding region
CCDC125	TF binding region
ENSG00000152942	Chromatin interaction
ENSG00000152939	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv968922	chr5:68628679-68631659	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68627200-68629200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr5:68627400-68629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:68627600-68629200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:68627800-68629200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr5:68627800-68629200	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:68628000-68629200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:68628000-68629200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:68628000-68629400	Active TSS	A549	lung
9	chr5:68628200-68629200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:68628200-68629200	Active TSS	Hela-S3	cervix
11	chr5:68628600-68629600	Flanking Active TSS	Dnd41	blood
12	chr5:68628800-68629200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:68628800-68629200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr5:68628800-68629200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:68629000-68629200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:68629000-68629200	Enhancers	Primary B cells from cord blood	blood
18	chr5:68629000-68629200	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:68629000-68629200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:68629000-68629200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:68629000-68629200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:68629000-68629200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:68629000-68629200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:68629000-68629200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:68629000-68629200	Active TSS	Liver	Liver
26	chr5:68629000-68629200	Enhancers	Colon Smooth Muscle	Colon
27	chr5:68629000-68629200	Enhancers	Placenta	Placenta
28	chr5:68629000-68629400	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:68629000-68629400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:68629000-68629400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:68629000-68629400	Enhancers	Fetal Muscle Leg	muscle
32	chr5:68629000-68629400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:68629000-68629400	Enhancers	Stomach Mucosa	stomach
34	chr5:68629000-68629600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr5:68629000-68629600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:68629000-68629600	ZNF genes & repeats	Fetal Thymus	thymus
37	chr5:68629000-68629600	Weak transcription	Right Atrium	heart
38	chr5:68629000-68629600	Weak transcription	Right Ventricle	heart
39	chr5:68629000-68629600	Enhancers	GM12878-XiMat	blood
40	chr5:68629000-68629800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr5:68629000-68629800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:68629000-68629800	Weak transcription	Brain Angular Gyrus	brain
43	chr5:68629000-68629800	Enhancers	HepG2	liver
44	chr5:68629000-68630000	Enhancers	Fetal Heart	heart
45	chr5:68629000-68630000	Enhancers	Pancreas	Pancrea
46	chr5:68629000-68630400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:68629000-68630400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:68629000-68630400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:68629000-68630400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:68629000-68630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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