Variant report

Variant	rs553963135
Chromosome Location	chr12:117316497-117316498
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:117316325-117317095	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:117316331-117317010	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr12:117316385-117316585	MCF10A-Er-Src	breast:	n/a	chr12:117316473-117316484
4	CEBPB	chr12:117316311-117316987	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:117316446-117317053	Hela-S3	cervix:	n/a	n/a
6	TBP	chr12:117316392-117316928	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr12:117316366-117316640	MCF10A-Er-Src	breast:	n/a	chr12:117316473-117316484
8	STAT3	chr12:117316205-117316706	MCF10A-Er-Src	breast:	n/a	chr12:117316657-117316669 chr12:117316473-117316484
9	RFX5	chr12:117316340-117317081	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:117316414-117316636	MCF-7	breast:	n/a	n/a
11	SMARCB1	chr12:117316356-117318213	Hela-S3	cervix:	n/a	n/a
12	E2F4	chr12:117316443-117316582	MCF10A-Er-Src	breast:	n/a	n/a
13	NR2F2	chr12:117316196-117316834	MCF-7	breast:	n/a	n/a
14	MAX	chr12:117316376-117317060	Hela-S3	cervix:	n/a	chr12:117316655-117316665
15	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
16	YY1	chr12:117316370-117316844	HCT-116	colon:	n/a	chr12:117316817-117316831 chr12:117316740-117316754 chr12:117316820-117316834 chr12:117316739-117316748
17	MYC	chr12:117316495-117316498	MCF-7	breast:	n/a	n/a
18	STAT3	chr12:117316298-117316661	MCF10A-Er-Src	breast:	n/a	chr12:117316473-117316484
19	GTF2F1	chr12:117316422-117317155	Hela-S3	cervix:	n/a	n/a
20	HA-E2F1	chr12:117316210-117316815	MCF-7	breast:	n/a	n/a
21	ZNF143	chr12:117316405-117316808	Hela-S3	cervix:	n/a	n/a
22	ZNF263	chr12:117316348-117317103	HEK293-T-REx	kidney:	n/a	chr12:117316779-117316788
23	CHD2	chr12:117316388-117316908	Hela-S3	cervix:	n/a	chr12:117316815-117316825
24	RAD21	chr12:117316347-117316623	Hela-S3	cervix:	n/a	chr12:117316512-117316526
25	MXI1	chr12:117316397-117317020	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr12:117316310-117317076	Hela-S3	cervix:	n/a	chr12:117316655-117316665
27	ELK1	chr12:117316399-117316599	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr12:117316405-117316584	Hela-S3	cervix:	n/a	chr12:117316473-117316484
29	USF2	chr12:117316482-117316665	Hela-S3	cervix:	n/a	n/a
30	RCOR1	chr12:117316288-117317050	Hela-S3	cervix:	n/a	n/a
31	TFAP2A	chr12:117316254-117317069	Hela-S3	cervix:	n/a	chr12:117316448-117316463
32	TFAP2C	chr12:117316201-117317098	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr12:117316329-117316845	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr12:117316283-117317121	MCF-7	breast:	n/a	chr12:117317061-117317075
35	POLR2A	chr12:117316313-117317030	HCT-116	colon:	n/a	n/a
36	POLR2A	chr12:117316234-117317093	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117316490-117316540	PANC-1	pancreas:	n/a
2	chr12:117316490-117316540	HCT-116	colon:	n/a
3	chr12:117316490-117316540	HUVEC	blood vessel:	n/a
4	chr12:117316490-117316540	LNCaP	prostate:	n/a
5	chr12:117316490-117316540	AoSMC	blood vessel:	n/a
6	chr12:117316490-117316540	PFSK-1	brain:	n/a
7	chr12:117316490-117316540	HRCEpiC	kidney:	n/a
8	chr12:117316490-117316540	HCF	heart:	n/a
9	chr12:117316490-117316540	HEEpiC	esophagus:	n/a
10	chr12:117316490-117316540	SKMC	muscle:	n/a
11	chr12:117316490-117316540	GM12891	blood:	n/a
12	chr12:117316490-117316540	GM19239	blood:	n/a
13	chr12:117316490-117316540	ProgFib	skin:	n/a
14	chr12:117316490-117316540	AG04450	lung:	fetal
15	chr12:117316490-117316540	Hela-S3	cervix:	n/a
16	chr12:117316490-117316540	HAEpiC	amniotic membrane:	n/a
17	chr12:117316490-117316540	NT2-D1	testis:	n/a
18	chr12:117316490-117316540	HRPEpiC	eye:	n/a
19	chr12:117316490-117316540	ECC-1	luminal epithelium:	n/a
20	chr12:117316490-117316540	HL-60	blood:	n/a
21	chr12:117316490-117316540	SAEC	small airway:	n/a
22	chr12:117316490-117316540	GM12892	blood:	n/a
23	chr12:117316490-117316540	NH-A	brain:	n/a
24	chr12:117316490-117316540	GM12878	blood:	n/a
25	chr12:117316490-117316540	BJ	skin:	n/a
26	chr12:117316490-117316540	IMR90	lung:	fetal
27	chr12:117316490-117316540	H1-hESC	embryonic stem cell:	embryo
28	chr12:117316490-117316540	HCM	heart:	n/a
29	chr12:117316490-117316540	AG09309	skin:	n/a
30	chr12:117316490-117316540	PrEC	prostate:	n/a
31	chr12:117316490-117316540	SK-N-SH	brain:	n/a
32	chr12:117316490-117316540	HEK293	kidney:	embryo
33	chr12:117316490-117316540	ovcar-3	ovarian:	n/a
34	chr12:117316490-117316540	Caco-2	colon:	n/a
35	chr12:117316490-117316540	GM06990	blood:	n/a
36	chr12:117316490-117316540	T-47D	breast:	n/a
37	chr12:117316490-117316540	NHDF-neo	bronchial:	n/a
38	chr12:117316490-117316540	BE2_C	brain:	n/a
39	chr12:117316490-117316540	AG10803	skin:	n/a
40	chr12:117316490-117316540	A549	lung:	n/a
41	chr12:117316490-117316540	HNPCEpiC	eye:	n/a
42	chr12:117316490-117316540	K562	blood:	n/a
43	chr12:117316490-117316540	Hepatocyte	liver:	n/a
44	chr12:117316490-117316540	CMK	blood:	n/a
45	chr12:117316490-117316540	Jurkat	blood:	n/a
46	chr12:117316490-117316540	SK-N-MC	brain:	n/a
47	chr12:117316490-117316540	HCPEpiC	choroid plexus:	n/a
48	chr12:117316490-117316540	U87	brain:	n/a
49	chr12:117316490-117316540	MCF-7	breast:	n/a
50	chr12:117316490-117316540	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000174989	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv826522	chr12:117316379-117317264	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117316600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:117316000-117316600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:117316000-117316600	Bivalent Enhancer	Esophagus	oesophagus
4	chr12:117316000-117316800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:117316000-117317400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
6	chr12:117316000-117317800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:117316200-117316600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:117316200-117316600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:117316200-117316600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
11	chr12:117316200-117316600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr12:117316200-117316600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117316200-117316600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:117316200-117316600	Bivalent Enhancer	NH-A	brain
15	chr12:117316200-117316800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr12:117316200-117316800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr12:117316200-117316800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr12:117316200-117316800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr12:117316200-117316800	Flanking Bivalent TSS/Enh	Thymus	Thymus
20	chr12:117316200-117317000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr12:117316200-117317000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr12:117316200-117317000	Flanking Active TSS	Right Ventricle	heart
23	chr12:117316200-117317000	Bivalent Enhancer	Spleen	Spleen
24	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr12:117316200-117317600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr12:117316200-117317800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:117316200-117318000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
32	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:117316400-117316600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:117316400-117316600	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:117316400-117316600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr12:117316400-117316600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:117316400-117316600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:117316400-117316600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:117316400-117316600	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr12:117316400-117316600	Bivalent Enhancer	Aorta	Aorta
45	chr12:117316400-117316600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:117316400-117316600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr12:117316400-117316600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr12:117316400-117316600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr12:117316400-117316600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr12:117316400-117316600	Bivalent Enhancer	Fetal Intestine Small	intestine

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