Variant report

Variant	rs7310325
Chromosome Location	chr12:56236318-56236319
allele	C/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	POLR2A	chr12:56236302-56237033	U87	brain:	n/a	n/a
2	JUN	chr12:56235909-56237196	K562	blood:	n/a	chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236787-56236797 chr12:56236788-56236796
3	POLR2A	chr12:56236308-56237033	U87	brain:	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
ENSG00000205323	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000170473	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1466512	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1619653	1.00[MEX][hapmap]
rs1681085	1.00[AMR][1000 genomes]
rs1689516	1.00[MEX][hapmap]
rs1701705	1.00[MEX][hapmap]
rs1725358	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1871999	1.00[AMR][1000 genomes]
rs2449476	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2462938	1.00[AMR][1000 genomes]
rs2694008	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	1.00[AMR][1000 genomes]
rs4759012	1.00[AMR][1000 genomes]
rs4759202	1.00[AMR][1000 genomes]
rs55884432	1.00[AMR][1000 genomes]
rs6581083	1.00[AMR][1000 genomes]
rs7294345	1.00[AMR][1000 genomes]
rs772250	1.00[AMR][1000 genomes]
rs772251	1.00[MEX][hapmap]
rs772252	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs772253	1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs772259	1.00[AMR][1000 genomes]
rs772260	1.00[AMR][1000 genomes]
rs772261	1.00[AMR][1000 genomes]
rs7956337	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7963379	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs808896	1.00[MEX][hapmap]
rs812230	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:83 , 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	chr12:56229400-56236400	Weak transcription	Thymus	Thymus
9	chr12:56230000-56236600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:56231200-56236400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:56232400-56236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
16	chr12:56234200-56236600	Weak transcription	Hela-S3	cervix
17	chr12:56234800-56237000	Active TSS	Colonic Mucosa	Colon
18	chr12:56235000-56237200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:56235200-56236400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:56235200-56236400	Weak transcription	HUVEC	blood vessel
21	chr12:56235200-56236600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:56235200-56237200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:56235400-56236600	Active TSS	Gastric	stomach
24	chr12:56235400-56236800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:56235600-56236400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:56235600-56236400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:56235600-56236600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:56235600-56236800	Active TSS	Right Atrium	heart
29	chr12:56235600-56237200	Flanking Active TSS	Osteobl	bone
30	chr12:56235600-56237600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:56235800-56236800	Active TSS	Duodenum Mucosa	Duodenum
32	chr12:56235800-56237000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:56235800-56237000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr12:56235800-56237000	Flanking Active TSS	HSMM	muscle
35	chr12:56235800-56237200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr12:56236000-56236400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:56236000-56236400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr12:56236000-56236400	Flanking Active TSS	HSMMtube	muscle
39	chr12:56236000-56236400	Enhancers	K562	blood
40	chr12:56236000-56236600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:56236000-56236600	Flanking Active TSS	Fetal Lung	lung
42	chr12:56236000-56236600	Flanking Active TSS	Ovary	ovary
43	chr12:56236000-56236800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:56236000-56236800	Active TSS	Aorta	Aorta
45	chr12:56236000-56236800	Active TSS	Psoas Muscle	Psoas
46	chr12:56236000-56236800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:56236000-56236800	Active TSS	Right Ventricle	heart
48	chr12:56236000-56236800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:56236000-56236800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:56236000-56236800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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