Variant report

Variant	rs551267378
Chromosome Location	chr5:79330944-79330945
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr5:79330761-79331391	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:79330830-79331030	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr5:79330709-79331446	H1-hESC	embryonic stem cell:	n/a	chr5:79331146-79331157
4	POLR2A	chr5:79330875-79331069	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr5:79330896-79331034	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr5:79330829-79330986	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr5:79330891-79331003	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79330929-79330979	GM12892	blood:	n/a
2	chr5:79330943-79330993	GM12892	blood:	n/a
3	chr5:79330929-79330979	HCF	heart:	n/a
4	chr5:79330943-79330993	PANC-1	pancreas:	n/a
5	chr5:79330943-79330993	HCPEpiC	choroid plexus:	n/a
6	chr5:79330943-79330993	MCF10A-Er-Src	breast:	n/a
7	chr5:79330929-79330979	HIPEpiC	eye:	n/a
8	chr5:79330929-79330979	HAEpiC	amniotic membrane:	n/a
9	chr5:79330929-79330979	MCF-7	breast:	n/a
10	chr5:79330943-79330993	Jurkat	blood:	n/a
11	chr5:79330943-79330993	NHBE	bronchial:	n/a
12	chr5:79330943-79330993	NT2-D1	testis:	n/a
13	chr5:79330929-79330979	HCM	heart:	n/a
14	chr5:79330929-79330979	ovcar-3	ovarian:	n/a
15	chr5:79330943-79330993	HRE	kidney:	n/a
16	chr5:79330929-79330979	PFSK-1	brain:	n/a
17	chr5:79330929-79330979	ECC-1	luminal epithelium:	n/a
18	chr5:79330943-79330993	AG10803	skin:	n/a
19	chr5:79330929-79330979	HepG2	liver:	n/a
20	chr5:79330929-79330979	NHDF-neo	bronchial:	n/a
21	chr5:79330943-79330993	HepG2	liver:	n/a
22	chr5:79330943-79330993	SK-N-SH_RA	brain:	n/a
23	chr5:79330943-79330993	HCM	heart:	n/a
24	chr5:79330943-79330993	RPTEC	kidney:	n/a
25	chr5:79330943-79330993	SAEC	small airway:	n/a
26	chr5:79330929-79330979	LNCaP	prostate:	n/a
27	chr5:79330929-79330979	AG09309	skin:	n/a
28	chr5:79330929-79330979	GM12878	blood:	n/a
29	chr5:79330929-79330979	NT2-D1	testis:	n/a
30	chr5:79330943-79330993	GM06990	blood:	n/a
31	chr5:79330929-79330979	AG10803	skin:	n/a
32	chr5:79330943-79330993	HRPEpiC	eye:	n/a
33	chr5:79330929-79330979	HEK293	kidney:	embryo
34	chr5:79330929-79330979	PrEC	prostate:	n/a
35	chr5:79330929-79330979	AG04449	skin:	fetal
36	chr5:79330929-79330979	T-47D	breast:	n/a
37	chr5:79330943-79330993	HEEpiC	esophagus:	n/a
38	chr5:79330929-79330979	NH-A	brain:	n/a
39	chr5:79330929-79330979	HL-60	blood:	n/a
40	chr5:79330943-79330993	H1-hESC	embryonic stem cell:	embryo
41	chr5:79330943-79330993	Caco-2	colon:	n/a
42	chr5:79330929-79330979	AoSMC	blood vessel:	n/a
43	chr5:79330943-79330993	BE2_C	brain:	n/a
44	chr5:79330929-79330979	A549	lung:	n/a
45	chr5:79330929-79330979	MCF10A-Er-Src	breast:	n/a
46	chr5:79330943-79330993	A549	lung:	n/a
47	chr5:79330929-79330979	CMK	blood:	n/a
48	chr5:79330929-79330979	U87	brain:	n/a
49	chr5:79330929-79330979	GM12891	blood:	n/a
50	chr5:79330929-79330979	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
THBS4	TF binding region
TRMT112P2	TF binding region
TRMT112P2	CpG island
THBS4	CpG island

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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv598743	chr5:79329538-79335267	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3423458	chr5:79330021-79332569	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3385040	chr5:79330296-79332294	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv882223	chr5:79330559-79357117	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:79330200-79332200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:79330400-79331400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:79330400-79331600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr5:79330400-79331600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79330400-79332000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:79330400-79332200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:79330600-79331000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
8	chr5:79330600-79331000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:79330600-79331000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr5:79330600-79331000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:79330600-79331000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr5:79330600-79331000	Bivalent/Poised TSS	NHEK	skin
13	chr5:79330600-79331200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr5:79330600-79331200	Bivalent/Poised TSS	Psoas Muscle	Psoas
15	chr5:79330600-79331200	Bivalent/Poised TSS	Right Ventricle	heart
16	chr5:79330600-79331400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:79330600-79331400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:79330600-79331400	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr5:79330600-79331600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr5:79330600-79331600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr5:79330600-79331600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr5:79330600-79331600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr5:79330600-79331600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr5:79330600-79331600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:79330600-79331600	Active TSS	Brain Anterior Caudate	brain
26	chr5:79330600-79331600	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr5:79330600-79331600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr5:79330600-79331600	Active TSS	Right Atrium	heart
29	chr5:79330600-79331600	Bivalent/Poised TSS	NH-A	brain
30	chr5:79330600-79331800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:79330600-79331800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:79330600-79331800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:79330600-79331800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr5:79330600-79331800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr5:79330600-79331800	Bivalent Enhancer	Fetal Heart	heart
36	chr5:79330600-79332000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:79330600-79332000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:79330600-79332000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:79330600-79332000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr5:79330600-79332000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
43	chr5:79330600-79332000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr5:79330600-79332200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
45	chr5:79330800-79331000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:79330800-79331000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:79330800-79331000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:79330800-79331000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:79330800-79331000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
50	chr5:79330800-79331000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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