Variant report

Variant	rs1533245
Chromosome Location	chr12:124018986-124018987
allele	G/T
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	PBX3	chr12:124018688-124019299	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr12:124018409-124019010	IMR90	lung:	n/a	n/a
3	MAX	chr12:124017255-124019286	HepG2	liver:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
4	POLR2A	chr12:124017557-124019155	K562	blood:	n/a	n/a
5	MXI1	chr12:124018345-124019113	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:124017306-124019150	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:124018287-124019042	MCF10A-Er-Src	breast:	n/a	n/a
8	HDAC2	chr12:124018351-124019046	HepG2	liver:	n/a	n/a
9	E2F6	chr12:124018845-124019015	K562	blood:	n/a	chr12:124018976-124018990
10	CTCF	chr12:124018860-124019010	Hela-S3	cervix:	n/a	chr12:124018907-124018916
11	CTCF	chr12:124018272-124019282	A549	lung:	n/a	chr12:124018907-124018916
12	POLR2A	chr12:124017688-124019111	K562	blood:	n/a	n/a
13	CTCF	chr12:124018860-124019010	GM12866	blood:	n/a	chr12:124018907-124018916
14	CTCF	chr12:124018860-124019010	AG10803	skin:	n/a	chr12:124018907-124018916
15	MAX	chr12:124017326-124019119	K562	blood:	n/a	chr12:124017624-124017639
16	POLR2A	chr12:124018902-124019101	Hela-S3	cervix:	n/a	n/a
17	USF2	chr12:124018929-124019093	HepG2	liver:	n/a	n/a
18	CTCF	chr12:124018880-124019030	K562	blood:	n/a	chr12:124018907-124018916
19	RFX5	chr12:124018860-124019017	K562	blood:	n/a	n/a
20	POLR2A	chr12:124017562-124019144	HUVEC	blood vessel:	n/a	n/a
21	ZBTB7A	chr12:124018326-124019309	ECC-1	luminal epithelium:	n/a	chr12:124018617-124018625
22	SIN3AK20	chr12:124018779-124019122	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr12:124018297-124019036	PFSK-1	brain:	n/a	n/a
24	CTCF	chr12:124018840-124018990	HCPEpiC	choroid plexus:	n/a	chr12:124018907-124018916
25	POLR2A	chr12:124018305-124019111	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr12:124017269-124019274	A549	lung:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
27	CTCF	chr12:124018860-124019010	Caco-2	colon:	n/a	chr12:124018907-124018916
28	CTCF	chr12:124018880-124019030	AG09309	skin:	n/a	chr12:124018907-124018916
29	USF1	chr12:124018735-124019033	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr12:124018960-124019110	NHDF-neo	bronchial:	n/a	n/a
31	TBP	chr12:124018840-124019047	HepG2	liver:	n/a	n/a
32	SIN3A	chr12:124018847-124019139	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:124017727-124019089	K562	blood:	n/a	n/a
34	POLR2A	chr12:124018207-124019131	PANC-1	pancreas:	n/a	n/a
35	CCNT2	chr12:124017594-124018993	K562	blood:	n/a	chr12:124018745-124018754
36	POLR2A	chr12:124018331-124019073	Hela-S3	cervix:	n/a	n/a
37	RCOR1	chr12:124018804-124019116	K562	blood:	n/a	n/a
38	CHD2	chr12:124018432-124019068	K562	blood:	n/a	chr12:124018515-124018525
39	POLR2A	chr12:124018633-124019044	SK-N-MC	brain:	n/a	n/a
40	TEAD4	chr12:124018892-124019237	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:124018958-124019047	K562	blood:	n/a	n/a
42	ZBTB7A	chr12:124018147-124019171	K562	blood:	n/a	chr12:124018617-124018625
43	ZBTB7A	chr12:124018335-124019056	K562	blood:	n/a	chr12:124018617-124018625
44	RFX5	chr12:124018410-124019109	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr12:124016579-124019401	IMR90	lung:	n/a	chr12:124019137-124019147 chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
46	POLR2A	chr12:124018562-124019011	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr12:124018840-124018990	NHDF-neo	bronchial:	n/a	chr12:124018907-124018916
48	POLR2A	chr12:124017644-124019078	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:124018029-124019143	HEK293	kidney:	n/a	n/a
50	CHD2	chr12:124018613-124019088	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
2	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
3	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
4	chr12:124018609..124020737-chr12:124028286..124031087,2	MCF-7	breast:
5	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
6	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
7	chr12:124018289..124019128-chr19:50370267..50370907,2	Hela-S3	cervix:
8	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
9	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
10	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
11	chr12:123912338..123913868-chr12:124018894..124020678,2	K562	blood:
12	chr12:123942564..123944577-chr12:124016063..124019666,4	MCF-7	breast:
13	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
14	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
15	chr12:123930108..123930636-chr12:124018341..124019216,2	MCF-7	breast:
16	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:
17	chr12:124017444..124019100-chr12:124084646..124086674,2	MCF-7	breast:

Variant related genes	Relation type
RILPL1	TF binding region
MIR3908	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000266655	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000039650	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3357232	chr12:124017349-124019447	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124016400-124019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:124016800-124019000	Active TSS	Left Ventricle	heart
3	chr12:124016800-124019200	Active TSS	Aorta	Aorta
4	chr12:124016800-124019400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124016800-124019400	Active TSS	Right Atrium	heart
6	chr12:124017000-124019000	Active TSS	NHDF-Ad	bronchial
7	chr12:124017000-124019200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:124017000-124019200	Active TSS	Ovary	ovary
9	chr12:124017000-124019200	Active TSS	Psoas Muscle	Psoas
10	chr12:124017000-124019200	Active TSS	Right Ventricle	heart
11	chr12:124017000-124019200	Active TSS	NHLF	lung
12	chr12:124017000-124019400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:124017000-124019400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:124017000-124019600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:124017200-124019000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:124017200-124019000	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:124017200-124019000	Active TSS	A549	lung
18	chr12:124017200-124019400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:124017200-124019400	Active TSS	Colon Smooth Muscle	Colon
20	chr12:124017200-124019400	Active TSS	HSMM	muscle
21	chr12:124017400-124019000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:124017400-124019200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:124017400-124019200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:124017400-124019400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:124017400-124019400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:124017400-124019400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:124017400-124019400	Active TSS	Brain Angular Gyrus	brain
28	chr12:124017400-124019400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:124017400-124019400	Active TSS	Lung	lung
30	chr12:124017400-124019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:124017600-124019000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:124017600-124019000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:124017600-124019000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:124017600-124019000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:124017600-124019000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:124017600-124019000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:124017600-124019000	Active TSS	Brain Substantia Nigra	brain
38	chr12:124017600-124019000	Active TSS	Fetal Lung	lung
39	chr12:124017600-124019000	Active TSS	Fetal Stomach	stomach
40	chr12:124017600-124019000	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:124017600-124019000	Active TSS	NHEK	skin
42	chr12:124017600-124019200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:124017600-124019200	Active TSS	Brain Hippocampus Middle	brain
44	chr12:124017600-124019400	Active TSS	Rectal Smooth Muscle	rectum
45	chr12:124017600-124019400	Active TSS	Hela-S3	cervix
46	chr12:124017600-124019600	Active TSS	Brain Anterior Caudate	brain
47	chr12:124017800-124019000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:124017800-124019000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:124017800-124019000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:124017800-124019000	Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links