Variant report

Variant	rs114098637
Chromosome Location	chr4:124318761-124318762
allele	C/G/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	MYBL2	chr4:124317439-124318916	HepG2	liver:	n/a	n/a
2	CTCF	chr4:124318680-124318830	GM12873	blood:	n/a	n/a
3	POLR2A	chr4:124318698-124318893	ProgFib	skin:	n/a	n/a
4	STAT1	chr4:124318322-124318911	GM12878	blood:	n/a	n/a
5	MXI1	chr4:124317674-124320156	GM12878	blood:	n/a	n/a
6	RAD21	chr4:124318390-124319064	H1-hESC	embryonic stem cell:	n/a	chr4:124318546-124318556
7	SIN3AK20	chr4:124318360-124318948	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr4:124318419-124319750	HepG2	liver:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
9	E2F6	chr4:124318349-124319817	H1-hESC	embryonic stem cell:	n/a	chr4:124319515-124319524 chr4:124319515-124319527 chr4:124319715-124319724 chr4:124319509-124319518
10	POLR2A	chr4:124318752-124318942	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:124318230-124318837	H1-neurons	neurons:	n/a	n/a
12	TCF12	chr4:124318258-124320535	ECC-1	luminal epithelium:	n/a	chr4:124319740-124319747 chr4:124318543-124318551 chr4:124318678-124318688
13	POLR2A	chr4:124318551-124318990	A549	lung:	n/a	n/a
14	TEAD4	chr4:124318227-124318854	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:124317591-124321155	HL-60	blood:	n/a	n/a
16	CTBP2	chr4:124318422-124320909	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:124317669-124319432	HepG2	liver:	n/a	n/a
18	CTCF	chr4:124318740-124318890	NHEK	skin:	n/a	n/a
19	BHLHE40	chr4:124318394-124321321	GM12878	blood:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319756-124319772 chr4:124319602-124319618
20	MXI1	chr4:124317273-124321457	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr4:124317699-124320893	HEK293	kidney:	n/a	n/a
22	MAX	chr4:124318297-124319835	K562	blood:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
23	CCNT2	chr4:124318601-124319724	K562	blood:	n/a	chr4:124319515-124319524
24	NFIC	chr4:124317344-124318812	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:124317600-124318976	HepG2	liver:	n/a	n/a
26	MYC	chr4:124317439-124319747	MCF10A-Er-Src	breast:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
27	MAX	chr4:124317659-124319856	SK-N-SH	brain:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
28	FOXA1	chr4:124317553-124318821	HepG2	liver:	n/a	chr4:124318409-124318424
29	RAD21	chr4:124318280-124318878	SK-N-SH_RA	brain:	n/a	chr4:124318546-124318556
30	CHD2	chr4:124317690-124319228	H1-hESC	embryonic stem cell:	n/a	chr4:124318677-124318687
31	MYC	chr4:124317619-124321435	NB4	blood:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
32	CREB1	chr4:124317600-124319012	HepG2	liver:	n/a	n/a
33	MAX	chr4:124318333-124320311	H1-hESC	embryonic stem cell:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
34	SIN3AK20	chr4:124318418-124318761	HepG2	liver:	n/a	n/a
35	SP1	chr4:124317433-124318971	HCT-116	colon:	n/a	n/a
36	TEAD4	chr4:124318364-124318848	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr4:124318427-124319732	HUVEC	blood vessel:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
38	BHLHE40	chr4:124317679-124320258	HepG2	liver:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319756-124319772 chr4:124319602-124319618
39	ZNF263	chr4:124317611-124321479	HEK293-T-REx	kidney:	n/a	chr4:124320581-124320590 chr4:124317910-124317931
40	MYC	chr4:124318543-124318926	MCF-7	breast:	n/a	chr4:124318656-124318666
41	POLR2A	chr4:124317516-124324681	PANC-1	pancreas:	n/a	n/a
42	MAX	chr4:124318485-124318785	K562	blood:	n/a	chr4:124318656-124318666
43	CREB1	chr4:124318384-124318868	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:124318403-124319212	HepG2	liver:	n/a	n/a
45	REST	chr4:124318415-124318913	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr4:124318277-124318859	PFSK-1	brain:	n/a	n/a
47	MAX	chr4:124318239-124319825	MCF-7	breast:	n/a	chr4:124318656-124318666 chr4:124319645-124319655 chr4:124319507-124319517
48	GATA1	chr4:124317291-124318988	PBDE	blood:	n/a	chr4:124318123-124318130 chr4:124318121-124318130 chr4:124318116-124318137
49	TAF1	chr4:124317737-124319126	ECC-1	luminal epithelium:	n/a	n/a
50	HA-E2F1	chr4:124318427-124320649	MCF-7	breast:	n/a	chr4:124319515-124319524 chr4:124319515-124319527 chr4:124319955-124319964 chr4:124319715-124319724 chr4:124319509-124319518

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124318366..124320000-chr4:124320399..124322395,2	MCF-7	breast:
2	chr4:124317259..124319394-chr4:124319799..124323152,4	MCF-7	breast:

Variant related genes	Relation type
SPRY1	TF binding region
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv3442616	chr4:124318327-124320875	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:124317000-124322000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:124317200-124323000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:124317400-124318800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:124317400-124318800	Active TSS	Fetal Intestine Small	intestine
5	chr4:124317400-124318800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr4:124317400-124319400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:124317400-124319600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:124317400-124320000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr4:124317400-124320800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:124317400-124320800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:124317400-124321200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:124317400-124321400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:124317400-124321600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr4:124317400-124321800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:124317400-124322000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:124317400-124322200	Active TSS	Adipose Nuclei	Adipose
17	chr4:124317400-124322200	Active TSS	Fetal Kidney	kidney
18	chr4:124317400-124322200	Active TSS	Fetal Lung	lung
19	chr4:124317400-124322400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:124317400-124322400	Active TSS	Brain Anterior Caudate	brain
21	chr4:124317400-124322400	Active TSS	Fetal Intestine Large	intestine
22	chr4:124317400-124322400	Active TSS	Stomach Smooth Muscle	stomach
23	chr4:124317400-124322600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr4:124317400-124322600	Active TSS	Colon Smooth Muscle	Colon
25	chr4:124317400-124322600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr4:124317400-124322600	Active TSS	Psoas Muscle	Psoas
27	chr4:124317400-124322800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:124317400-124322800	Active TSS	Aorta	Aorta
29	chr4:124317400-124322800	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr4:124317400-124322800	Active TSS	NHLF	lung
31	chr4:124317400-124323200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:124317400-124327000	Active TSS	Right Atrium	heart
33	chr4:124317600-124318800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:124317600-124318800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:124317600-124319200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:124317600-124319200	Active TSS	Right Ventricle	heart
37	chr4:124317600-124319200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr4:124317600-124319400	ZNF genes & repeats	Fetal Brain Male	brain
39	chr4:124317600-124319800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:124317600-124320000	Active TSS	Fetal Brain Female	brain
41	chr4:124317600-124320200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:124317600-124320600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr4:124317600-124321000	Active TSS	Hela-S3	cervix
44	chr4:124317600-124321200	Active TSS	Fetal Heart	heart
45	chr4:124317600-124321200	Flanking Bivalent TSS/Enh	Dnd41	blood
46	chr4:124317600-124321400	Active TSS	A549	lung
47	chr4:124317600-124321600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr4:124317600-124321600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr4:124317600-124321600	Active TSS	Brain Angular Gyrus	brain
50	chr4:124317600-124321600	Active TSS	Brain Cingulate Gyrus	brain

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