Variant report

Variant	rs375427215
Chromosome Location	chr5:92921023-92921024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:92919810-92921306	HepG2	liver:	n/a	n/a
2	CHD2	chr5:92920668-92922079	Hela-S3	cervix:	n/a	chr5:92920697-92920707
3	REST	chr5:92920971-92921323	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr5:92921020-92921170	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr5:92920902-92921334	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:92919425-92922226	Hela-S3	cervix:	n/a	n/a
7	RFX5	chr5:92921013-92921200	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr5:92917513-92922404	SK-N-SH	brain:	n/a	chr5:92918848-92918863
9	POLR2A	chr5:92920877-92921305	U87	brain:	n/a	n/a
10	SMARCB1	chr5:92920682-92921632	Hela-S3	cervix:	n/a	n/a
11	HEY1	chr5:92921013-92921320	HepG2	liver:	n/a	n/a
12	EBF1	chr5:92920985-92921259	GM12878	blood:	n/a	n/a
13	MAX	chr5:92920873-92921298	ECC-1	luminal epithelium:	n/a	n/a
14	CTBP2	chr5:92919429-92921750	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:92920938-92921048	MCF-7	breast:	n/a	n/a
16	POLR2A	chr5:92920719-92921938	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:92920870-92921345	HCT-116	colon:	n/a	n/a
18	MXI1	chr5:92920860-92921290	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:92919701-92921892	HEK293	kidney:	n/a	n/a
20	SMC3	chr5:92920977-92921244	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr5:92920824-92921360	A549	lung:	n/a	n/a
22	POLR2A	chr5:92920906-92921195	Gliobla	brain:	n/a	n/a
23	MAZ	chr5:92919538-92921594	Hela-S3	cervix:	n/a	n/a
24	GTF2F1	chr5:92920995-92921604	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:92921022-92921163	MCF10A-Er-Src	breast:	n/a	n/a
26	MXI1	chr5:92920845-92921297	HepG2	liver:	n/a	n/a
27	TAF1	chr5:92920971-92921275	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:92920878-92921290	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr5:92920636-92921239	PANC-1	pancreas:	n/a	n/a
30	ZNF143	chr5:92920992-92921181	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELK1	chr5:92920956-92921208	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr5:92920823-92921269	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr5:92921019-92921059	HepG2	liver:	n/a	n/a
34	POLR2A	chr5:92920909-92921185	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:92920927-92921051	A549	lung:	n/a	n/a
36	POLR2A	chr5:92920921-92921337	Hela-S3	cervix:	n/a	n/a
37	MAX	chr5:92920847-92921395	A549	lung:	n/a	n/a
38	POLR2A	chr5:92918332-92922151	Hela-S3	cervix:	n/a	n/a
39	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386
40	MAX	chr5:92920694-92922174	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr5:92920978-92921281	GM12878	blood:	n/a	n/a
42	MYC	chr5:92920792-92921260	NB4	blood:	n/a	n/a
43	MAX	chr5:92920771-92921361	ECC-1	luminal epithelium:	n/a	n/a
44	RAD21	chr5:92920998-92921138	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:92920938-92921255	HepG2	liver:	n/a	n/a
46	NFIC	chr5:92920858-92921364	ECC-1	luminal epithelium:	n/a	n/a
47	RAD21	chr5:92920966-92922101	IMR90	lung:	n/a	chr5:92921377-92921396
48	POLR2A	chr5:92920966-92921233	ProgFib	skin:	n/a	n/a
49	ZNF263	chr5:92920899-92922197	HEK293-T-REx	kidney:	n/a	n/a
50	POLR2A	chr5:92920811-92921368	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92921023-92921073	GM12892	blood:	n/a
2	chr5:92921023-92921073	HL-60	blood:	n/a
3	chr5:92921023-92921073	AG09319	gingival:	n/a
4	chr5:92921023-92921073	IMR90	lung:	fetal
5	chr5:92921023-92921073	H1-hESC	embryonic stem cell:	embryo
6	chr5:92921023-92921073	K562	blood:	n/a
7	chr5:92921023-92921073	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:92921023-92921073	AoSMC	blood vessel:	n/a
9	chr5:92921023-92921073	GM12878	blood:	n/a
10	chr5:92921023-92921073	AG09309	skin:	n/a
11	chr5:92921023-92921073	NB4	blood:	n/a
12	chr5:92921023-92921073	AG04449	skin:	fetal
13	chr5:92921023-92921073	Jurkat	blood:	n/a
14	chr5:92921023-92921073	T-47D	breast:	n/a
15	chr5:92921023-92921073	ovcar-3	ovarian:	n/a
16	chr5:92921023-92921073	ProgFib	skin:	n/a
17	chr5:92921023-92921073	HepG2	liver:	n/a
18	chr5:92921023-92921073	HRPEpiC	eye:	n/a
19	chr5:92921023-92921073	HIPEpiC	eye:	n/a
20	chr5:92921023-92921073	SAEC	small airway:	n/a
21	chr5:92921023-92921073	ECC-1	luminal epithelium:	n/a
22	chr5:92921023-92921073	SK-N-SH	brain:	n/a
23	chr5:92921023-92921073	HNPCEpiC	eye:	n/a
24	chr5:92921023-92921073	MCF10A-Er-Src	breast:	n/a
25	chr5:92921023-92921073	HCPEpiC	choroid plexus:	n/a
26	chr5:92921023-92921073	HEEpiC	esophagus:	n/a
27	chr5:92921023-92921073	GM12891	blood:	n/a
28	chr5:92921023-92921073	Caco-2	colon:	n/a
29	chr5:92921023-92921073	HRE	kidney:	n/a
30	chr5:92921023-92921073	AG04450	lung:	fetal
31	chr5:92921023-92921073	Hela-S3	cervix:	n/a
32	chr5:92921023-92921073	LNCaP	prostate:	n/a
33	chr5:92921023-92921073	NHBE	bronchial:	n/a
34	chr5:92921023-92921073	U87	brain:	n/a
35	chr5:92921023-92921073	HCM	heart:	n/a
36	chr5:92921023-92921073	PrEC	prostate:	n/a
37	chr5:92921023-92921073	HRCEpiC	kidney:	n/a
38	chr5:92921023-92921073	CMK	blood:	n/a
39	chr5:92921023-92921073	HEK293	kidney:	embryo
40	chr5:92921023-92921073	BJ	skin:	n/a
41	chr5:92921023-92921073	SK-N-MC	brain:	n/a
42	chr5:92921023-92921073	SKMC	muscle:	n/a
43	chr5:92921023-92921073	NHDF-neo	bronchial:	n/a
44	chr5:92921023-92921073	SK-N-SH_RA	brain:	n/a
45	chr5:92921023-92921073	A549	lung:	n/a
46	chr5:92921023-92921073	MCF-7	breast:	n/a
47	chr5:92921023-92921073	GM19239	blood:	n/a
48	chr5:92921023-92921073	HCT-116	colon:	n/a
49	chr5:92921023-92921073	HCF	heart:	n/a
50	chr5:92921023-92921073	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92914959..92917781-chr5:92918156..92922060,3	MCF-7	breast:

No data

Variant related genes	Relation type
NR2F1	TF binding region
NR2F1-AS1	TF binding region
NR2F1	CpG island
NR2F1-AS1	CpG island
ENSG00000237187	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3423958	chr5:92919096-92921969	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
9	esv3468495	chr5:92919221-92922169	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
10	esv3468497	chr5:92919221-92922169	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
11	esv1794960	chr5:92919821-92932305	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1837322	chr5:92919821-92933747	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv598949	chr5:92920115-92922781	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92913800-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
3	chr5:92914200-92921600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
5	chr5:92914400-92922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:92914400-92922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:92914600-92924600	Active TSS	HSMM	muscle
8	chr5:92914600-92924800	Active TSS	Right Atrium	heart
9	chr5:92914800-92921800	Active TSS	Psoas Muscle	Psoas
10	chr5:92914800-92921800	Active TSS	Osteobl	bone
11	chr5:92914800-92923200	Active TSS	Ovary	ovary
12	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:92915000-92921600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:92915000-92922200	Active TSS	HSMMtube	muscle
15	chr5:92915200-92921600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:92915200-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:92915200-92923600	Active TSS	NH-A	brain
18	chr5:92916200-92921600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:92916400-92923200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr5:92916400-92923400	Active TSS	Stomach Smooth Muscle	stomach
22	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
23	chr5:92916800-92921600	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:92917000-92921400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:92918000-92921600	Bivalent/Poised TSS	NHEK	skin
26	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:92918400-92921800	Active TSS	A549	lung
28	chr5:92918400-92922600	Active TSS	Hela-S3	cervix
29	chr5:92918600-92921400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:92918600-92921600	Active TSS	HUVEC	blood vessel
31	chr5:92919000-92921400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:92919000-92921600	Active TSS	HMEC	breast
33	chr5:92919000-92922000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:92919000-92923400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:92919200-92921400	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:92919400-92921200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:92919400-92921400	Active TSS	Brain Anterior Caudate	brain
38	chr5:92919400-92921400	Active TSS	Colon Smooth Muscle	Colon
39	chr5:92919600-92921200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:92919600-92921200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:92919600-92921400	Active TSS	Gastric	stomach
42	chr5:92919600-92921400	Active TSS	Spleen	Spleen
43	chr5:92919600-92921600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:92919600-92921800	Bivalent/Poised TSS	Esophagus	oesophagus
45	chr5:92919800-92921400	Active TSS	Pancreas	Pancrea
46	chr5:92919800-92921400	Bivalent/Poised TSS	Dnd41	blood
47	chr5:92919800-92921600	Active TSS	Liver	Liver
48	chr5:92919800-92925400	Active TSS	Brain Germinal Matrix	brain
49	chr5:92920200-92921400	Bivalent/Poised TSS	Thymus	Thymus
50	chr5:92920400-92921400	Enhancers	Primary T helper cells fromperipheralblood	blood

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