Variant report

Variant	rs569024897
Chromosome Location	chr12:120807652-120807653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:120807336-120807718	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:120807452-120807797	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr12:120806007-120807796	H1-neurons	neurons:	n/a	chr12:120806454-120806467 chr12:120807182-120807195 chr12:120806586-120806599 chr12:120806454-120806467
4	POLR2A	chr12:120807363-120807714	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:120807440-120807770	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120807618-120807668	Jurkat	blood:	n/a
2	chr12:120807618-120807668	HCT-116	colon:	n/a
3	chr12:120807618-120807668	NHDF-neo	bronchial:	n/a
4	chr12:120807618-120807668	HEK293	kidney:	embryo
5	chr12:120807618-120807668	MCF10A-Er-Src	breast:	n/a
6	chr12:120807618-120807668	PFSK-1	brain:	n/a
7	chr12:120807618-120807668	HL-60	blood:	n/a
8	chr12:120807618-120807668	NHBE	bronchial:	n/a
9	chr12:120807618-120807668	T-47D	breast:	n/a
10	chr12:120807618-120807668	SAEC	small airway:	n/a
11	chr12:120807618-120807668	RPTEC	kidney:	n/a
12	chr12:120807618-120807668	A549	lung:	n/a
13	chr12:120807618-120807668	HEEpiC	esophagus:	n/a
14	chr12:120807618-120807668	ECC-1	luminal epithelium:	n/a
15	chr12:120807618-120807668	Caco-2	colon:	n/a
16	chr12:120807618-120807668	HRCEpiC	kidney:	n/a
17	chr12:120807618-120807668	SKMC	muscle:	n/a
18	chr12:120807618-120807668	HIPEpiC	eye:	n/a
19	chr12:120807618-120807668	AG04449	skin:	fetal
20	chr12:120807618-120807668	GM12891	blood:	n/a
21	chr12:120807618-120807668	Hepatocyte	liver:	n/a
22	chr12:120807618-120807668	AG10803	skin:	n/a
23	chr12:120807618-120807668	ovcar-3	ovarian:	n/a
24	chr12:120807618-120807668	AoSMC	blood vessel:	n/a
25	chr12:120807618-120807668	GM19239	blood:	n/a
26	chr12:120807618-120807668	NB4	blood:	n/a
27	chr12:120807618-120807668	NH-A	brain:	n/a
28	chr12:120807618-120807668	GM12892	blood:	n/a
29	chr12:120807618-120807668	SK-N-SH_RA	brain:	n/a
30	chr12:120807618-120807668	HepG2	liver:	n/a
31	chr12:120807618-120807668	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:120807618-120807668	HCF	heart:	n/a
33	chr12:120807618-120807668	HRPEpiC	eye:	n/a
34	chr12:120807618-120807668	LNCaP	prostate:	n/a
35	chr12:120807618-120807668	HMEC	breast:	n/a
36	chr12:120807618-120807668	Hela-S3	cervix:	n/a
37	chr12:120807618-120807668	BJ	skin:	n/a
38	chr12:120807618-120807668	H1-hESC	embryonic stem cell:	embryo
39	chr12:120807618-120807668	HUVEC	blood vessel:	n/a
40	chr12:120807618-120807668	HAEpiC	amniotic membrane:	n/a
41	chr12:120807618-120807668	HRE	kidney:	n/a
42	chr12:120807618-120807668	AG04450	lung:	fetal
43	chr12:120807618-120807668	HCM	heart:	n/a
44	chr12:120807618-120807668	IMR90	lung:	fetal
45	chr12:120807618-120807668	AG09309	skin:	n/a
46	chr12:120807618-120807668	U87	brain:	n/a
47	chr12:120807618-120807668	AG09319	gingival:	n/a
48	chr12:120807618-120807668	SK-N-MC	brain:	n/a
49	chr12:120807618-120807668	PrEC	prostate:	n/a
50	chr12:120807618-120807668	PANC-1	pancreas:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

No data

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region
RPS27P25	CpG island
MSI1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3323244	chr12:120805194-120807742	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3427204	chr12:120805794-120808192	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120805000-120807800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120805200-120808000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:120805600-120807800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:120805600-120807800	Active TSS	Right Atrium	heart
8	chr12:120805600-120808000	Active TSS	Left Ventricle	heart
9	chr12:120805800-120808000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:120805800-120808200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:120806400-120807800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:120806400-120807800	Bivalent/Poised TSS	Aorta	Aorta
13	chr12:120806400-120807800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:120807200-120807800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:120807200-120807800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:120807200-120807800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr12:120807200-120807800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr12:120807200-120807800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr12:120807200-120808000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:120807200-120808000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr12:120807200-120808000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr12:120807200-120808000	Bivalent Enhancer	Placenta	Placenta
27	chr12:120807200-120809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:120807400-120807800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr12:120807400-120807800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:120807400-120807800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:120807400-120807800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:120807400-120807800	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr12:120807400-120807800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:120807400-120807800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
35	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:120807400-120807800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr12:120807400-120807800	Flanking Active TSS	Pancreas	Pancrea
42	chr12:120807400-120807800	Enhancers	Small Intestine	intestine
43	chr12:120807400-120807800	Flanking Bivalent TSS/Enh	NH-A	brain
44	chr12:120807400-120808000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:120807400-120808000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
48	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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