Variant report

Variant	rs72955517
Chromosome Location	chr4:148703558-148703559
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	MAFK	chr4:148703195-148703745	IMR90	lung:	n/a	n/a
2	JUND	chr4:148703083-148704017	SK-N-SH	brain:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
3	TCF7L2	chr4:148703181-148703619	HEK293	kidney:	n/a	chr4:148703462-148703471 chr4:148703571-148703580
4	JUND	chr4:148703077-148703784	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
5	CUX1	chr4:148703553-148703603	GM12878	blood:	n/a	n/a
6	KAP1	chr4:148703115-148703757	U2OS	brain:	n/a	chr4:148703572-148703581
7	FOS	chr4:148703216-148703784	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
8	POLR2A	chr4:148703015-148703858	SK-N-MC	brain:	n/a	n/a
9	TCF12	chr4:148703082-148703895	SK-N-SH	brain:	n/a	n/a
10	BATF	chr4:148703385-148703766	GM12878	blood:	n/a	chr4:148703567-148703578 chr4:148703568-148703578 chr4:148703572-148703582
11	MAX	chr4:148703096-148703836	HCT-116	colon:	n/a	chr4:148703571-148703580
12	POLR2A	chr4:148703247-148703609	GM12878	blood:	n/a	n/a
13	TCF7L2	chr4:148703241-148703704	HCT-116	colon:	n/a	chr4:148703462-148703471 chr4:148703571-148703580
14	NR3C1	chr4:148703544-148703991	A549	lung:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
15	FOSL1	chr4:148703094-148703768	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
16	RUNX3	chr4:148703128-148703718	GM12878	blood:	n/a	n/a
17	KAP1	chr4:148703034-148703848	HEK293	kidney:	n/a	chr4:148703572-148703581
18	FOS	chr4:148703223-148703724	HUVEC	blood vessel:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
19	TCF7L2	chr4:148703359-148703660	PANC-1	pancreas:	n/a	chr4:148703462-148703471 chr4:148703571-148703580
20	FOSL1	chr4:148703007-148704041	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
21	EP300	chr4:148703176-148703683	SK-N-SH_RA	brain:	n/a	chr4:148703570-148703579 chr4:148703571-148703580
22	FOS	chr4:148702998-148703752	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
23	STAT3	chr4:148703180-148703628	GM12878	blood:	n/a	chr4:148703571-148703580 chr4:148703570-148703579
24	CBX3	chr4:148703020-148703809	HCT-116	colon:	n/a	n/a
25	EP300	chr4:148703118-148703620	SK-N-SH_RA	brain:	n/a	chr4:148703570-148703579 chr4:148703571-148703580
26	FOS	chr4:148703236-148703882	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
27	RAD21	chr4:148703553-148703853	SK-N-SH_RA	brain:	n/a	n/a
28	JUND	chr4:148703103-148703896	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
29	FOS	chr4:148703333-148703751	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
30	JUND	chr4:148703148-148703815	SK-N-SH	brain:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
31	SP1	chr4:148702990-148704011	HCT-116	colon:	n/a	n/a
32	FOXP2	chr4:148703389-148703774	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
MIR4799	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10001327	0.87[EUR][1000 genomes]
rs11930432	1.00[EUR][1000 genomes]
rs11938642	1.00[EUR][1000 genomes]
rs17023836	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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv3414867	chr4:148703352-148707250	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
4	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
6	chr4:148698800-148703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:148700600-148703800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
12	chr4:148701600-148706400	Weak transcription	Thymus	Thymus
13	chr4:148701600-148706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:148701800-148704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:148702000-148706400	Weak transcription	Fetal Thymus	thymus
17	chr4:148702000-148707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:148702000-148707400	Weak transcription	Gastric	stomach
19	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
20	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
27	chr4:148702200-148707400	Weak transcription	Lung	lung
28	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
29	chr4:148702400-148706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:148702600-148706600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:148703000-148703600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:148703000-148704000	Enhancers	HUVEC	blood vessel
33	chr4:148703200-148703600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:148703200-148703600	Flanking Active TSS	GM12878-XiMat	blood
35	chr4:148703200-148703600	Enhancers	HSMMtube	muscle
36	chr4:148703200-148703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:148703200-148703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:148703200-148703800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:148703200-148703800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:148703200-148703800	Enhancers	Fetal Heart	heart
41	chr4:148703200-148703800	Enhancers	Fetal Lung	lung
42	chr4:148703200-148703800	Enhancers	Ovary	ovary
43	chr4:148703200-148703800	Enhancers	Small Intestine	intestine
44	chr4:148703200-148703800	Flanking Active TSS	A549	lung
45	chr4:148703200-148703800	Enhancers	Hela-S3	cervix
46	chr4:148703200-148703800	Flanking Active TSS	NH-A	brain
47	chr4:148703200-148703800	Enhancers	NHDF-Ad	bronchial
48	chr4:148703200-148704000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:148703200-148704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:148703200-148704000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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