Variant report

Variant	rs563640220
Chromosome Location	chr5:179159242-179159243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr5:179159033-179160964	MCF-7	breast:	n/a	n/a
2	BHLHE40	chr5:179158862-179159864	K562	blood:	n/a	n/a
3	POLR2A	chr5:179159049-179160434	ProgFib	skin:	n/a	n/a
4	SP1	chr5:179158990-179159398	GM12878	blood:	n/a	n/a
5	PML	chr5:179159122-179159311	GM12878	blood:	n/a	n/a
6	STAT3	chr5:179159122-179159648	Hela-S3	cervix:	n/a	n/a
7	NR2F2	chr5:179158553-179159941	K562	blood:	n/a	n/a
8	POLR2A	chr5:179158415-179159288	HepG2	liver:	n/a	n/a
9	FOS	chr5:179159060-179159863	MCF10A-Er-Src	breast:	n/a	chr5:179159752-179159761
10	TAF1	chr5:179159239-179160191	A549	lung:	n/a	n/a
11	EP300	chr5:179159095-179159543	GM12878	blood:	n/a	n/a
12	RELA	chr5:179159161-179160185	GM10847	blood:	n/a	n/a
13	MXI1	chr5:179159163-179159878	K562	blood:	n/a	n/a
14	EP300	chr5:179159229-179160040	A549	lung:	n/a	chr5:179159668-179159677
15	POLR2A	chr5:179158879-179160178	GM12891	blood:	n/a	n/a
16	STAT3	chr5:179159147-179159831	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr5:179159017-179160011	K562	blood:	n/a	chr5:179159752-179159761 chr5:179159223-179159234
18	REST	chr5:179159073-179160165	HL-60	blood:	n/a	n/a
19	POLR2A	chr5:179158625-179160201	GM12892	blood:	n/a	n/a
20	MAX	chr5:179159082-179160843	MCF-7	breast:	n/a	n/a
21	CEBPB	chr5:179159099-179160088	ECC-1	luminal epithelium:	n/a	n/a
22	BATF	chr5:179159059-179159402	GM12878	blood:	n/a	n/a
23	CHD2	chr5:179159172-179160041	GM12878	blood:	n/a	n/a
24	STAT3	chr5:179159167-179159784	MCF10A-Er-Src	breast:	n/a	n/a
25	CREB1	chr5:179158968-179160113	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:179158657-179160317	GM12878	blood:	n/a	n/a
27	EP300	chr5:179159229-179159907	K562	blood:	n/a	chr5:179159668-179159677
28	SRF	chr5:179159164-179160028	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:179158956-179160730	Hela-S3	cervix:	n/a	n/a
30	NFIC	chr5:179158544-179160010	GM12878	blood:	n/a	n/a
31	CCNT2	chr5:179158634-179160483	K562	blood:	n/a	n/a
32	NFYA	chr5:179159009-179159945	K562	blood:	n/a	chr5:179159750-179159765 chr5:179159746-179159764 chr5:179159752-179159765 chr5:179159754-179159766 chr5:179159753-179159763 chr5:179159751-179159765 chr5:179159750-179159765
33	JUND	chr5:179158915-179160209	A549	lung:	n/a	chr5:179159752-179159761 chr5:179159223-179159234
34	EP300	chr5:179159167-179159886	GM12878	blood:	n/a	chr5:179159668-179159677
35	IRF3	chr5:179159229-179159879	Hela-S3	cervix:	n/a	chr5:179159244-179159251 chr5:179159609-179159623 chr5:179159754-179159763 chr5:179159805-179159819
36	HCFC1	chr5:179158328-179160993	Hela-S3	cervix:	n/a	n/a
37	SPI1	chr5:179159072-179159906	HL-60	blood:	n/a	n/a
38	POLR2A	chr5:179159035-179160008	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr5:179158446-179160396	HepG2	liver:	n/a	n/a
40	MTA3	chr5:179158380-179160082	GM12878	blood:	n/a	n/a
41	MAX	chr5:179159028-179160921	A549	lung:	n/a	n/a
42	MTA3	chr5:179158609-179159639	GM12878	blood:	n/a	n/a
43	RAD21	chr5:179159227-179159742	Hela-S3	cervix:	n/a	chr5:179159615-179159625
44	TCF7L2	chr5:179159119-179160274	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:179158882-179160901	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr5:179159100-179159978	A549	lung:	n/a	n/a
47	POLR2A	chr5:179159095-179160123	HUVEC	blood vessel:	n/a	n/a
48	TEAD4	chr5:179158583-179160023	K562	blood:	n/a	n/a
49	POLR2A	chr5:179158631-179160649	GM12892	blood:	n/a	n/a
50	POLR2A	chr5:179158787-179160759	GM12892	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
2	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
3	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
4	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
5	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
6	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
7	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
8	chr5:179134656..179136597-chr5:179158024..179159754,2	K562	blood:
9	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
10	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
11	chr5:179134567..179136257-chr5:179157699..179160057,2	MCF-7	breast:
12	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
13	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
14	chr5:179148995..179151218-chr5:179158028..179161139,3	MCF-7	breast:
15	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
16	chr5:179152255..179157364-chr5:179157617..179161141,8	K562	blood:
17	chr5:179102368..179107935-chr5:179157286..179161555,5	K562	blood:
18	chr5:179104047..179107935-chr5:179157751..179161258,3	K562	blood:
19	chr5:179051109..179052652-chr5:179157575..179159893,2	K562	blood:
20	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
21	chr5:179143486..179153989-chr5:179156108..179164461,19	MCF-7	breast:
22	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
23	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
24	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
25	chr5:179131963..179134145-chr5:179158329..179159855,2	K562	blood:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000161013	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
5	esv3413500	chr5:179159171-179161719	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 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	chr5:179130800-179159800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:179149400-179159400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179152200-179159800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179155000-179159400	Weak transcription	Gastric	stomach
5	chr5:179155000-179159800	Weak transcription	Spleen	Spleen
6	chr5:179156000-179159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:179156600-179159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:179156600-179159800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:179158000-179159400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:179158200-179159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179158200-179159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:179158400-179159400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr5:179158400-179159400	Enhancers	Fetal Heart	heart
14	chr5:179158600-179159400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:179158600-179159400	Flanking Active TSS	Liver	Liver
16	chr5:179158600-179159400	Flanking Active TSS	GM12878-XiMat	blood
17	chr5:179158600-179159400	Flanking Active TSS	Osteobl	bone
18	chr5:179158600-179159600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr5:179158600-179161200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:179158800-179159400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:179158800-179159400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:179158800-179159400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr5:179158800-179159400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:179158800-179159400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr5:179158800-179159400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr5:179158800-179159400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:179158800-179159400	Enhancers	Pancreas	Pancrea
28	chr5:179158800-179159400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:179158800-179159400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr5:179158800-179159600	Flanking Active TSS	HUVEC	blood vessel
31	chr5:179158800-179159800	Enhancers	Fetal Brain Male	brain
32	chr5:179158800-179160800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:179158800-179160800	Active TSS	Thymus	Thymus
34	chr5:179158800-179161200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:179158800-179161400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:179158800-179161400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:179159000-179159400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:179159000-179159400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:179159000-179159400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:179159000-179159400	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr5:179159000-179159400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr5:179159000-179159400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:179159000-179159400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr5:179159000-179159400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:179159000-179159400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:179159000-179159400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:179159000-179159400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr5:179159000-179159400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr5:179159000-179159400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr5:179159000-179159400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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