Variant report

Variant	rs534646833
Chromosome Location	chr12:63546283-63546284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:63545775-63546288	MCF-7	breast:	n/a	n/a
2	RAD21	chr12:63545717-63546386	MCF-7	breast:	n/a	chr12:63546321-63546335
3	CTCF	chr12:63545621-63546650	A549	lung:	n/a	chr12:63546025-63546038
4	RAD21	chr12:63545726-63546285	ECC-1	luminal epithelium:	n/a	n/a
5	SMC3	chr12:63545841-63546283	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:63545734-63546350	HCT-116	colon:	n/a	chr12:63546025-63546038
7	RAD21	chr12:63545739-63546319	HCT-116	colon:	n/a	n/a
8	CTCF	chr12:63546140-63546290	GM12870	blood:	n/a	n/a
9	RAD21	chr12:63545790-63546300	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr12:63545696-63546400	SK-N-SH	brain:	n/a	chr12:63546025-63546038
11	STAT3	chr12:63546220-63546624	MCF10A-Er-Src	breast:	n/a	n/a
12	KAP1	chr12:63544476-63546436	HEK293	kidney:	n/a	n/a
13	RAD21	chr12:63545763-63546334	A549	lung:	n/a	n/a
14	CTCF	chr12:63546200-63546350	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr12:63546180-63546330	WI-38	lung:	n/a	n/a
16	CTCF	chr12:63545781-63546288	K562	blood:	n/a	chr12:63546025-63546038

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63546263-63546313	SK-N-SH	brain:	n/a
2	chr12:63546263-63546313	HL-60	blood:	n/a
3	chr12:63546263-63546313	Caco-2	colon:	n/a
4	chr12:63546263-63546313	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:63546263-63546313	HMEC	breast:	n/a
6	chr12:63546263-63546313	LNCaP	prostate:	n/a
7	chr12:63546263-63546313	BJ	skin:	n/a
8	chr12:63546263-63546313	AG09309	skin:	n/a
9	chr12:63546263-63546313	GM06990	blood:	n/a
10	chr12:63546263-63546313	ECC-1	luminal epithelium:	n/a
11	chr12:63546263-63546313	HCM	heart:	n/a
12	chr12:63546263-63546313	NB4	blood:	n/a
13	chr12:63546263-63546313	HRPEpiC	eye:	n/a
14	chr12:63546263-63546313	BE2_C	brain:	n/a
15	chr12:63546263-63546313	HRCEpiC	kidney:	n/a
16	chr12:63546263-63546313	HepG2	liver:	n/a
17	chr12:63546263-63546313	AG10803	skin:	n/a
18	chr12:63546263-63546313	NH-A	brain:	n/a
19	chr12:63546263-63546313	HCPEpiC	choroid plexus:	n/a
20	chr12:63546263-63546313	Hepatocyte	liver:	n/a
21	chr12:63546263-63546313	Jurkat	blood:	n/a
22	chr12:63546263-63546313	SKMC	muscle:	n/a
23	chr12:63546263-63546313	ovcar-3	ovarian:	n/a
24	chr12:63546263-63546313	SK-N-MC	brain:	n/a
25	chr12:63546263-63546313	NHDF-neo	bronchial:	n/a
26	chr12:63546263-63546313	H1-hESC	embryonic stem cell:	embryo
27	chr12:63546263-63546313	GM12892	blood:	n/a
28	chr12:63546263-63546313	Hela-S3	cervix:	n/a
29	chr12:63546263-63546313	RPTEC	kidney:	n/a
30	chr12:63546263-63546313	GM19239	blood:	n/a
31	chr12:63546263-63546313	PrEC	prostate:	n/a
32	chr12:63546263-63546313	SAEC	small airway:	n/a
33	chr12:63546263-63546313	IMR90	lung:	fetal
34	chr12:63546263-63546313	NHBE	bronchial:	n/a
35	chr12:63546263-63546313	MCF10A-Er-Src	breast:	n/a
36	chr12:63546263-63546313	GM12891	blood:	n/a
37	chr12:63546263-63546313	MCF-7	breast:	n/a
38	chr12:63546263-63546313	ProgFib	skin:	n/a
39	chr12:63546263-63546313	AG04449	skin:	fetal
40	chr12:63546263-63546313	A549	lung:	n/a
41	chr12:63546263-63546313	HEEpiC	esophagus:	n/a
42	chr12:63546263-63546313	HEK293	kidney:	embryo
43	chr12:63546263-63546313	PFSK-1	brain:	n/a
44	chr12:63546263-63546313	GM12878	blood:	n/a
45	chr12:63546263-63546313	CMK	blood:	n/a
46	chr12:63546263-63546313	HCF	heart:	n/a
47	chr12:63546263-63546313	HAEpiC	amniotic membrane:	n/a
48	chr12:63546263-63546313	AG09319	gingival:	n/a
49	chr12:63546263-63546313	AG04450	lung:	fetal
50	chr12:63546263-63546313	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:63545448..63546470-chr12:63670124..63671316,6	MCF-7	breast:
2	chr12:63545419..63546376-chr12:64195555..64196413,2	MCF-7	breast:
3	chr12:63545559..63546473-chr12:63669896..63671149,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MON2-3	chr12:63546261-63546418	ENSG00000257973.1

No data

Variant related genes	Relation type
AVPR1A	TF binding region
AVPR1A	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv469592	chr12:63486510-63679139	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv482578	chr12:63486510-63679139	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv832436	chr12:63503993-63658112	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2761742	chr12:63537412-63582333	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1035231	chr12:63537412-63582333	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv899164	chr12:63540476-63611633	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv899165	chr12:63545986-63641641	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63543200-63546400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:63543800-63546800	Flanking Active TSS	Liver	Liver
3	chr12:63544200-63546400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:63544200-63546400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr12:63545400-63546400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr12:63545400-63546400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
7	chr12:63545400-63546400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr12:63545400-63546400	Bivalent Enhancer	Fetal Heart	heart
9	chr12:63545600-63546400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:63545600-63546400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
11	chr12:63545800-63546400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:63545800-63546400	Active TSS	Colon Smooth Muscle	Colon
13	chr12:63546000-63546400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:63546000-63546400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr12:63546000-63546400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr12:63546000-63546400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr12:63546000-63546400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:63546000-63546400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:63546000-63546400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr12:63546000-63546400	Weak transcription	Right Ventricle	heart
21	chr12:63546000-63546400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr12:63546000-63546400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr12:63546000-63546400	Bivalent Enhancer	A549	lung
24	chr12:63546000-63546600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:63546000-63546600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:63546000-63549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:63546200-63546400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr12:63546200-63546400	Bivalent Enhancer	Primary T cells from cord blood	blood
29	chr12:63546200-63546400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:63546200-63546400	Bivalent Enhancer	Aorta	Aorta
31	chr12:63546200-63546400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
32	chr12:63546200-63546400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
33	chr12:63546200-63546400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr12:63546200-63546400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr12:63546200-63546400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr12:63546200-63546400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr12:63546200-63546400	Enhancers	Fetal Stomach	stomach
38	chr12:63546200-63546400	Enhancers	Right Atrium	heart
39	chr12:63546200-63546600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:63546200-63546600	Enhancers	Adipose Nuclei	Adipose
41	chr12:63546200-63546600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links