Variant report

Variant	rs573611572
Chromosome Location	chr7:22397410-22397411
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	MAX	chr7:22395826-22397740	ECC-1	luminal epithelium:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
2	TEAD4	chr7:22396927-22398028	HepG2	liver:	n/a	n/a
3	FOXA2	chr7:22397303-22397668	HepG2	liver:	n/a	n/a
4	E2F6	chr7:22396744-22397636	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA1	chr7:22397239-22398021	HepG2	liver:	n/a	n/a
6	NFIC	chr7:22397247-22397957	HepG2	liver:	n/a	chr7:22397919-22397936
7	POLR2A	chr7:22395920-22397909	HepG2	liver:	n/a	n/a
8	MAX	chr7:22395733-22398023	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
9	MAZ	chr7:22397329-22397577	HepG2	liver:	n/a	n/a
10	STAT3	chr7:22396607-22397791	MCF10A-Er-Src	breast:	n/a	chr7:22397019-22397033 chr7:22397177-22397189 chr7:22397419-22397430 chr7:22397022-22397030 chr7:22397509-22397517
11	SIN3AK20	chr7:22397031-22397877	MCF-7	breast:	n/a	n/a
12	MAX	chr7:22396532-22397762	ECC-1	luminal epithelium:	n/a	n/a
13	BHLHE40	chr7:22395948-22397776	HepG2	liver:	n/a	chr7:22396791-22396807
14	FOS	chr7:22397260-22397721	MCF10A-Er-Src	breast:	n/a	chr7:22397480-22397491
15	MYBL2	chr7:22396969-22397731	HepG2	liver:	n/a	n/a
16	FOXA2	chr7:22397303-22397700	A549	lung:	n/a	n/a
17	HEY1	chr7:22397218-22397685	HepG2	liver:	n/a	n/a
18	SMC3	chr7:22397167-22397765	HepG2	liver:	n/a	chr7:22397504-22397514
19	MAFK	chr7:22397239-22397603	HepG2	liver:	n/a	n/a
20	FOSL2	chr7:22397210-22397653	HepG2	liver:	n/a	n/a
21	HA-E2F1	chr7:22396589-22397706	MCF-7	breast:	n/a	chr7:22396694-22396704
22	TCF7L2	chr7:22397333-22397578	MCF-7	breast:	n/a	n/a
23	HEY1	chr7:22396317-22398005	HepG2	liver:	n/a	chr7:22396714-22396729
24	POLR2A	chr7:22397307-22397632	HCT-116	colon:	n/a	n/a
25	NR2F2	chr7:22397141-22397685	MCF-7	breast:	n/a	n/a
26	E2F4	chr7:22396756-22397637	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr7:22397082-22397666	MCF10A-Er-Src	breast:	n/a	chr7:22397177-22397189 chr7:22397419-22397430 chr7:22397509-22397517
28	MYC	chr7:22396558-22397616	MCF10A-Er-Src	breast:	n/a	n/a
29	REST	chr7:22397257-22397696	HepG2	liver:	n/a	n/a
30	TEAD4	chr7:22397264-22397743	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr7:22397023-22397786	ECC-1	luminal epithelium:	n/a	n/a
32	MBD4	chr7:22396886-22397820	HepG2	liver:	n/a	n/a
33	STAT3	chr7:22397071-22397599	MCF10A-Er-Src	breast:	n/a	chr7:22397177-22397189 chr7:22397419-22397430 chr7:22397509-22397517
34	STAT3	chr7:22397253-22397752	MCF10A-Er-Src	breast:	n/a	chr7:22397419-22397430 chr7:22397509-22397517
35	FOXA1	chr7:22397332-22397735	ECC-1	luminal epithelium:	n/a	n/a
36	FOXA1	chr7:22397201-22397992	HepG2	liver:	n/a	n/a
37	ESR1	chr7:22397303-22397690	ECC-1	luminal epithelium:	n/a	n/a
38	FOS	chr7:22397138-22397677	MCF10A-Er-Src	breast:	n/a	chr7:22397480-22397491
39	NFIC	chr7:22397275-22397601	HepG2	liver:	n/a	n/a
40	CHD2	chr7:22397048-22397625	HepG2	liver:	n/a	n/a
41	JUND	chr7:22397320-22397647	HepG2	liver:	n/a	n/a
42	ESR1	chr7:22397196-22397678	ECC-1	luminal epithelium:	n/a	n/a
43	ZEB1	chr7:22396466-22397931	HepG2	liver:	n/a	chr7:22397008-22397019
44	MAX	chr7:22396342-22397654	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408
45	CTCF	chr7:22397400-22397550	HMEC	breast:	n/a	n/a
46	ARID3A	chr7:22397040-22397640	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:22396478-22398049	HepG2	liver:	n/a	n/a
48	JUND	chr7:22397293-22397676	HepG2	liver:	n/a	n/a
49	NFIC	chr7:22396573-22397786	ECC-1	luminal epithelium:	n/a	n/a
50	TCF12	chr7:22396445-22397841	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22397116..22399145-chr7:22400776..22403703,2	MCF-7	breast:
2	chr7:22396965..22399007-chr7:22400295..22402165,2	K562	blood:

Variant related genes	Relation type
RAPGEF5	TF binding region

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	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3437848	chr7:22395252-22397800	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3375885	chr7:22395502-22397825	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3445637	chr7:22395652-22398200	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22394400-22397600	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:22395000-22397600	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:22396200-22397800	Enhancers	Fetal Brain Male	brain
4	chr7:22396800-22397800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:22397000-22397600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr7:22397000-22397600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr7:22397000-22397600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr7:22397000-22397600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:22397000-22397600	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr7:22397000-22397600	Active TSS	Fetal Kidney	kidney
11	chr7:22397000-22397600	Flanking Active TSS	Pancreas	Pancrea
12	chr7:22397000-22397600	Flanking Active TSS	Dnd41	blood
13	chr7:22397000-22397600	Flanking Active TSS	NH-A	brain
14	chr7:22397000-22397600	Flanking Active TSS	Osteobl	bone
15	chr7:22397000-22397800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr7:22397000-22397800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:22397000-22397800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:22397000-22397800	Enhancers	Fetal Thymus	thymus
19	chr7:22397000-22397800	Flanking Active TSS	HMEC	breast
20	chr7:22397000-22397800	Flanking Active TSS	NHEK	skin
21	chr7:22397000-22398000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr7:22397200-22397600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:22397200-22397600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:22397200-22397600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr7:22397200-22397600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:22397200-22397600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr7:22397200-22397600	Bivalent Enhancer	Fetal Brain Female	brain
28	chr7:22397200-22397600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:22397200-22397600	Enhancers	Gastric	stomach
30	chr7:22397200-22397600	Enhancers	Ovary	ovary
31	chr7:22397200-22397600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:22397200-22397600	Flanking Active TSS	Stomach Mucosa	stomach
33	chr7:22397200-22397600	Bivalent Enhancer	A549	lung
34	chr7:22397200-22397600	Enhancers	HUVEC	blood vessel
35	chr7:22397200-22397800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:22397200-22397800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:22397400-22397600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr7:22397400-22397600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
39	chr7:22397400-22397600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr7:22397400-22397600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:22397400-22397600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr7:22397400-22397600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:22397400-22397600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
44	chr7:22397400-22397600	Active TSS	Adipose Nuclei	Adipose
45	chr7:22397400-22397600	Active TSS	Brain Substantia Nigra	brain
46	chr7:22397400-22397600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:22397400-22397600	Enhancers	Fetal Stomach	stomach
48	chr7:22397400-22397600	Enhancers	Left Ventricle	heart
49	chr7:22397400-22397600	Enhancers	Lung	lung
50	chr7:22397400-22397600	Enhancers	Skeletal Muscle Male	skeletal muscle

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