Variant report

Variant	rs113864357
Chromosome Location	chr7:22396399-22396400
allele	C/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	CTCF	chr7:22396380-22396530	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr7:22396284-22396564	HUVEC	blood vessel:	n/a	n/a
4	SIN3A	chr7:22395713-22396845	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr7:22396356-22396592	SK-N-SH_RA	brain:	n/a	n/a
6	MYC	chr7:22396258-22396851	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408
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	MAX	chr7:22395746-22396567	GM12878	blood:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
10	MAX	chr7:22395821-22397345	H1-hESC	embryonic stem cell:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
11	BHLHE40	chr7:22395948-22397776	HepG2	liver:	n/a	chr7:22396791-22396807
12	HEY1	chr7:22396317-22398005	HepG2	liver:	n/a	chr7:22396714-22396729
13	POLR2A	chr7:22395614-22397066	Raji	blood:	n/a	n/a
14	RAD21	chr7:22396251-22396905	H1-hESC	embryonic stem cell:	n/a	chr7:22396794-22396807
15	POLR2A	chr7:22395610-22396939	GM19099	blood:	n/a	n/a
16	POLR2A	chr7:22395775-22396933	GM19193	blood:	n/a	n/a
17	POLR2A	chr7:22396375-22396834	GM12892	blood:	n/a	n/a
18	MAX	chr7:22396342-22397654	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408
19	YY1	chr7:22396385-22396850	H1-hESC	embryonic stem cell:	n/a	chr7:22396785-22396799 chr7:22396385-22396399
20	POLR2A	chr7:22396244-22396843	GM12878	blood:	n/a	n/a
21	CTCF	chr7:22396380-22396530	GM12875	blood:	n/a	n/a
22	MXI1	chr7:22396373-22397788	HepG2	liver:	n/a	n/a
23	CTCF	chr7:22396320-22396470	HMEC	breast:	n/a	n/a
24	MXI1	chr7:22395172-22397746	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr7:22395680-22396914	GM15510	blood:	n/a	n/a
26	POLR2A	chr7:22395773-22396924	GM18951	blood:	n/a	n/a
27	MAX	chr7:22395826-22396505	H1-hESC	embryonic stem cell:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
28	GABPA	chr7:22396363-22396840	H1-hESC	embryonic stem cell:	n/a	chr7:22396781-22396790 chr7:22396402-22396411 chr7:22396727-22396736
29	MAX	chr7:22395602-22398083	HepG2	liver:	n/a	chr7:22396400-22396409 chr7:22396401-22396408 chr7:22396247-22396257
30	TAF1	chr7:22396366-22397066	HepG2	liver:	n/a	n/a
31	YY1	chr7:22396075-22396888	HepG2	liver:	n/a	chr7:22396785-22396799 chr7:22396249-22396258 chr7:22396385-22396399
32	CTCF	chr7:22396340-22396490	GM12867	blood:	n/a	n/a
33	CHD2	chr7:22395824-22396452	GM12878	blood:	n/a	chr7:22396237-22396247
34	POLR2A	chr7:22395738-22396927	GM18505	blood:	n/a	n/a
35	POLR2A	chr7:22395607-22396475	HepG2	liver:	n/a	n/a
36	BHLHE40	chr7:22395839-22396507	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:22396253-22396519	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:22394994-22398094	HepG2	liver:	n/a	n/a

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22393800-22397000	Active TSS	Brain Anterior Caudate	brain
2	chr7:22394200-22397000	Active TSS	Brain Angular Gyrus	brain
3	chr7:22394400-22397600	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:22394800-22397000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:22395000-22397000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:22395000-22397000	Active TSS	Esophagus	oesophagus
7	chr7:22395000-22397000	Active TSS	Fetal Intestine Large	intestine
8	chr7:22395000-22397000	Active TSS	GM12878-XiMat	blood
9	chr7:22395000-22397200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr7:22395000-22397600	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:22395200-22396400	Active TSS	Right Ventricle	heart
12	chr7:22395200-22396800	Bivalent/Poised TSS	Small Intestine	intestine
13	chr7:22395200-22397000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:22395200-22397000	Active TSS	Colonic Mucosa	Colon
15	chr7:22395200-22397000	Active TSS	Lung	lung
16	chr7:22395400-22396400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:22395400-22396400	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr7:22395400-22397000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:22395400-22397000	Active TSS	Pancreas	Pancrea
20	chr7:22395400-22397000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr7:22395400-22397000	Bivalent/Poised TSS	HepG2	liver
22	chr7:22395400-22397200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:22395400-22397400	Active TSS	Thymus	Thymus
24	chr7:22395600-22396400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:22395600-22397000	Active TSS	Fetal Intestine Small	intestine
26	chr7:22395600-22397000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:22395600-22397000	Active TSS	Spleen	Spleen
28	chr7:22395800-22396400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:22395800-22396400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr7:22395800-22397000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:22395800-22397000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:22395800-22397000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:22395800-22397000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:22395800-22397000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:22395800-22397200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:22395800-22397200	Active TSS	Gastric	stomach
37	chr7:22395800-22397400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr7:22396000-22396400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:22396000-22396400	Enhancers	Aorta	Aorta
40	chr7:22396000-22396400	Enhancers	Fetal Heart	heart
41	chr7:22396000-22396400	Active TSS	Fetal Thymus	thymus
42	chr7:22396000-22396800	Bivalent/Poised TSS	HSMM	muscle
43	chr7:22396000-22397000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:22396000-22397000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:22396000-22397000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:22396000-22397000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:22396000-22397000	Active TSS	Primary hematopoietic stem cells	blood
48	chr7:22396000-22397000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:22396000-22397000	Active TSS	Left Ventricle	heart
50	chr7:22396000-22397000	Active TSS	Psoas Muscle	Psoas

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