Variant report

Variant	rs7294345
Chromosome Location	chr12:56236531-56236532
allele	A/G
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	RAD21	chr12:56236406-56236963	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:56236352-56236957	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:56236519-56236804	ProgFib	skin:	n/a	n/a
4	CTCF	chr12:56236500-56236650	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr12:56236505-56236971	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:56236480-56236992	IMR90	lung:	n/a	n/a
7	CTCF	chr12:56236420-56236710	HCM	heart:	n/a	n/a
8	POLR2A	chr12:56236302-56237033	U87	brain:	n/a	n/a
9	FOSL1	chr12:56236441-56237151	HCT-116	colon:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796 chr12:56236786-56236797
10	JUN	chr12:56235909-56237196	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796
11	CEBPB	chr12:56236464-56237148	HCT-116	colon:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
12	POLR2A	chr12:56236486-56236869	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:56236530-56236832	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr12:56236510-56237088	SK-N-SH	brain:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236785-56236796 chr12:56236788-56236796
15	CTCF	chr12:56236460-56236610	HVMF	connective:	n/a	n/a
16	CTCF	chr12:56236520-56236670	AG09309	skin:	n/a	n/a
17	CEBPB	chr12:56236522-56237102	A549	lung:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
18	CEBPB	chr12:56236442-56237157	HCT-116	colon:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
19	CTCF	chr12:56236520-56236670	HFF	foreskin:	n/a	n/a
20	FOSL1	chr12:56236496-56237063	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796 chr12:56236786-56236797
21	POLR2A	chr12:56236308-56237033	U87	brain:	n/a	n/a
22	CTCF	chr12:56236480-56236630	HVMF	connective:	n/a	n/a
23	CEBPB	chr12:56236412-56237228	K562	blood:	n/a	chr12:56236803-56236820 chr12:56236805-56236816
24	CTCF	chr12:56236500-56236650	HCFaa	heart:	n/a	n/a
25	POLR2A	chr12:56236518-56236802	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr12:56236460-56236610	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr12:56236520-56236670	HepG2	liver:	n/a	n/a
28	MAZ	chr12:56236449-56237469	IMR90	lung:	n/a	n/a
29	CTCF	chr12:56236440-56236590	AG04450	lung:	n/a	n/a
30	NR2F2	chr12:56236491-56237055	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
2	chr12:56222506..56227501-chr12:56233677..56237355,4	K562	blood:
3	chr12:56224688..56227501-chr12:56233908..56236745,4	K562	blood:
4	chr12:56228843..56232382-chr12:56234016..56237333,4	K562	blood:
5	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:
6	chr12:56235299..56237964-chr12:56318777..56323177,4	MCF-7	breast:
7	chr12:56232360..56237326-chr12:56316163..56320896,5	K562	blood:
8	chr12:56234715..56236964-chr12:56319809..56321457,2	K562	blood:

Variant related genes	Relation type
MMP19	TF binding region
ENSG00000182796	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000205323	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1466512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1725358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1871999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449476	1.00[AMR][1000 genomes]
rs2462938	1.00[AMR][1000 genomes]
rs2694008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	1.00[AMR][1000 genomes]
rs4759012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4759202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772250	1.00[AMR][1000 genomes]
rs772252	1.00[AMR][1000 genomes]
rs772253	1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772261	1.00[AMR][1000 genomes]
rs7956337	1.00[AMR][1000 genomes]
rs7963379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225400-56236600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56225400-56237000	Weak transcription	GM12878-XiMat	blood
3	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:56226200-56236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:56230000-56236600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
13	chr12:56234200-56236600	Weak transcription	Hela-S3	cervix
14	chr12:56234800-56237000	Active TSS	Colonic Mucosa	Colon
15	chr12:56235000-56237200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr12:56235200-56236600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:56235200-56237200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:56235400-56236600	Active TSS	Gastric	stomach
19	chr12:56235400-56236800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:56235600-56236600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:56235600-56236800	Active TSS	Right Atrium	heart
22	chr12:56235600-56237200	Flanking Active TSS	Osteobl	bone
23	chr12:56235600-56237600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:56235800-56236800	Active TSS	Duodenum Mucosa	Duodenum
25	chr12:56235800-56237000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:56235800-56237000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:56235800-56237000	Flanking Active TSS	HSMM	muscle
28	chr12:56235800-56237200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr12:56236000-56236600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:56236000-56236600	Flanking Active TSS	Fetal Lung	lung
31	chr12:56236000-56236600	Flanking Active TSS	Ovary	ovary
32	chr12:56236000-56236800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:56236000-56236800	Active TSS	Aorta	Aorta
34	chr12:56236000-56236800	Active TSS	Psoas Muscle	Psoas
35	chr12:56236000-56236800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:56236000-56236800	Active TSS	Right Ventricle	heart
37	chr12:56236000-56236800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr12:56236000-56236800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:56236000-56236800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:56236000-56237000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:56236000-56237000	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:56236000-56237000	Flanking Active TSS	NH-A	brain
43	chr12:56236000-56237000	Flanking Active TSS	NHLF	lung
44	chr12:56236000-56237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:56236000-56237200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:56236200-56236800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:56236200-56236800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:56236200-56236800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:56236200-56236800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:56236200-56236800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links