Variant report

Variant	rs528346795
Chromosome Location	chr4:57773831-57773832
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	E2F6	chr4:57773623-57775591	K562	blood:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
2	SP4	chr4:57773590-57774022	H1-hESC	embryonic stem cell:	n/a	chr4:57773942-57773953 chr4:57773938-57773954 chr4:57773940-57773956
3	SP1	chr4:57773313-57773965	H1-hESC	embryonic stem cell:	n/a	chr4:57773942-57773954 chr4:57773939-57773953 chr4:57773943-57773953 chr4:57773944-57773953 chr4:57773942-57773953 chr4:57773943-57773953 chr4:57773942-57773954 chr4:57773944-57773953 chr4:57773943-57773952
4	MAX	chr4:57773747-57775766	HepG2	liver:	n/a	n/a
5	CTBP2	chr4:57773280-57774131	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:57773738-57775553	NB4	blood:	n/a	n/a
7	POLR2A	chr4:57773827-57775478	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:57773716-57774376	ECC-1	luminal epithelium:	n/a	n/a
9	PAX5	chr4:57773781-57774262	GM12892	blood:	n/a	n/a
10	SIN3AK20	chr4:57773818-57774026	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr4:57773562-57773835	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:57773691-57774315	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr4:57773486-57773995	K562	blood:	n/a	n/a
14	HA-E2F1	chr4:57773647-57775798	MCF-7	breast:	n/a	chr4:57774165-57774175 chr4:57774582-57774592 chr4:57774574-57774584
15	CHD2	chr4:57773765-57773965	GM12878	blood:	n/a	chr4:57773944-57773954
16	SIN3AK20	chr4:57773768-57774314	K562	blood:	n/a	n/a
17	MAX	chr4:57773756-57775706	NB4	blood:	n/a	n/a
18	MXI1	chr4:57773345-57776166	IMR90	lung:	n/a	n/a
19	TBP	chr4:57773376-57774951	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:57773482-57774002	SK-N-MC	brain:	n/a	n/a
21	EP300	chr4:57773581-57773945	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:57773800-57773950	BJ	skin:	n/a	n/a
23	HDAC2	chr4:57773694-57773998	H1-hESC	embryonic stem cell:	n/a	n/a
24	EP300	chr4:57773767-57773933	HepG2	liver:	n/a	n/a
25	EGR1	chr4:57773813-57774091	K562	blood:	n/a	chr4:57773981-57773995
26	POLR2A	chr4:57773726-57774251	U87	brain:	n/a	n/a
27	MXI1	chr4:57773723-57775676	HepG2	liver:	n/a	n/a
28	UBTF	chr4:57773819-57776233	K562	blood:	n/a	n/a
29	POLR2A	chr4:57773675-57773988	SK-N-MC	brain:	n/a	n/a
30	BCL11A	chr4:57773599-57773878	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr4:57773105-57774259	H1-hESC	embryonic stem cell:	n/a	chr4:57774088-57774097
32	MAX	chr4:57773763-57775621	K562	blood:	n/a	n/a
33	TBL1XR1	chr4:57773767-57773941	K562	blood:	n/a	n/a
34	FOXP2	chr4:57773773-57774032	SK-N-MC	brain:	n/a	n/a
35	NANOG	chr4:57773256-57774100	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr4:57773663-57773858	K562	blood:	n/a	n/a
37	POLR2A	chr4:57773812-57775406	K562	blood:	n/a	n/a
38	TBL1XR1	chr4:57773800-57774336	GM12878	blood:	n/a	n/a
39	ELF1	chr4:57773783-57775651	GM12878	blood:	n/a	chr4:57775032-57775041 chr4:57774652-57774661 chr4:57775031-57775042 chr4:57774439-57774451
40	ZNF143	chr4:57773032-57773971	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr4:57773776-57776081	NB4	blood:	n/a	n/a
42	YY1	chr4:57773524-57773876	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr4:57773760-57773910	SK-N-SH_RA	brain:	n/a	n/a
44	SP4	chr4:57773550-57774029	H1-hESC	embryonic stem cell:	n/a	chr4:57773942-57773953 chr4:57773938-57773954 chr4:57773940-57773956
45	ZBTB7A	chr4:57773702-57775485	ECC-1	luminal epithelium:	n/a	chr4:57773897-57773906 chr4:57775068-57775076 chr4:57775067-57775075 chr4:57775231-57775239
46	POLR2A	chr4:57773821-57774417	GM12892	blood:	n/a	n/a
47	POLR2A	chr4:57773732-57774353	HCT-116	colon:	n/a	n/a
48	TAF1	chr4:57773814-57774259	HepG2	liver:	n/a	n/a
49	MAX	chr4:57773547-57774129	SK-N-SH	brain:	n/a	n/a
50	JUND	chr4:57773728-57775607	K562	blood:	n/a	chr4:57774863-57774873 chr4:57774862-57774874

No.	Distal block	Cell Line	Cell type
1	chr4:57772988..57775343-chr4:57776220..57778579,3	MCF-7	breast:
2	chr19:1248083..1248884-chr4:57773766..57774545,2	Hela-S3	cervix:
3	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
4	chr4:57301355..57303854-chr4:57773620..57776020,4	MCF-7	breast:
5	chr4:57302175..57303989-chr4:57773484..57775623,2	MCF-7	breast:
6	chr4:57771688..57776264-chr4:57841866..57845328,7	MCF-7	breast:
7	chr4:57299951..57301849-chr4:57773604..57776000,3	K562	blood:
8	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

Variant related genes	Relation type
REST	TF binding region
ENSG00000047315	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000128059	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv12676	chr4:57772270-57775584	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3374947	chr4:57773220-57776168	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3389347	chr4:57773345-57775893	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv594205	chr4:57773442-57775064	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv594206	chr4:57773595-57775543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr4:57772800-57776200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:57773000-57774000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr4:57773000-57774800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr4:57773000-57776000	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:57773200-57774000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr4:57773200-57774600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57773200-57775600	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr4:57773200-57775800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:57773200-57776000	Active TSS	A549	lung
10	chr4:57773200-57776000	Active TSS	HMEC	breast
11	chr4:57773200-57776200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57773200-57776200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:57773200-57776400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:57773200-57776600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:57773200-57776600	Active TSS	Aorta	Aorta
16	chr4:57773200-57776800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:57773400-57774000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:57773400-57774200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:57773400-57775600	Active TSS	Fetal Brain Female	brain
20	chr4:57773400-57775800	Active TSS	Esophagus	oesophagus
21	chr4:57773400-57776000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:57773400-57776000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:57773400-57776000	Active TSS	Duodenum Mucosa	Duodenum
24	chr4:57773400-57776200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr4:57773400-57776200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:57773400-57776200	Active TSS	Brain Anterior Caudate	brain
27	chr4:57773400-57776200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:57773400-57776200	Active TSS	Ovary	ovary
29	chr4:57773400-57776600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:57773400-57776800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:57773400-57776800	Active TSS	Psoas Muscle	Psoas
32	chr4:57773600-57774200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:57773600-57774200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:57773600-57774600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:57773600-57775200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr4:57773600-57775200	Active TSS	HepG2	liver
37	chr4:57773600-57775400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:57773600-57775400	Active TSS	Adipose Nuclei	Adipose
39	chr4:57773600-57775400	Active TSS	Placenta	Placenta
40	chr4:57773600-57775600	Active TSS	Primary T cells from cord blood	blood
41	chr4:57773600-57775600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:57773600-57775800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57773600-57775800	Active TSS	Brain Angular Gyrus	brain
44	chr4:57773600-57775800	Active TSS	Brain Cingulate Gyrus	brain
45	chr4:57773600-57775800	Active TSS	Brain Hippocampus Middle	brain
46	chr4:57773600-57775800	Active TSS	Gastric	stomach
47	chr4:57773600-57775800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:57773600-57775800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr4:57773600-57776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:57773600-57776000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links