Variant report

Variant	rs17844786
Chromosome Location	chr12:56237295-56237296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:56236449-56237469	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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	chr12:56228843..56232382-chr12:56234016..56237333,4	K562	blood:
4	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:
5	chr12:56235299..56237964-chr12:56318777..56323177,4	MCF-7	breast:
6	chr12:56232360..56237326-chr12:56316163..56320896,5	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13020	1.00[ASN][1000 genomes]
rs17117976	1.00[ASN][1000 genomes]
rs17844785	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17844787	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2231467	1.00[ASN][1000 genomes]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[ASN][1000 genomes]
rs715817	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772258	1.00[ASN][1000 genomes]
rs7975037	1.00[ASN][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
9	chr12:56235600-56237600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:56236600-56237400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:56236600-56241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:56236800-56237400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:56236800-56237400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:56236800-56237400	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:56236800-56237400	Enhancers	Placenta	Placenta
16	chr12:56236800-56237400	Enhancers	K562	blood
17	chr12:56236800-56237600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:56236800-56237600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:56236800-56238000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:56236800-56238000	Enhancers	Fetal Thymus	thymus
21	chr12:56236800-56239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:56236800-56239200	Weak transcription	Esophagus	oesophagus
23	chr12:56236800-56240800	Weak transcription	Left Ventricle	heart
24	chr12:56236800-56241000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:56236800-56241200	Weak transcription	Gastric	stomach
26	chr12:56236800-56241400	Weak transcription	Aorta	Aorta
27	chr12:56236800-56242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:56236800-56242400	Weak transcription	Right Ventricle	heart
29	chr12:56236800-56242600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:56237000-56237400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:56237000-56237400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:56237000-56237400	Enhancers	GM12878-XiMat	blood
33	chr12:56237000-56237400	Enhancers	HSMM	muscle
34	chr12:56237000-56237400	Enhancers	NH-A	brain
35	chr12:56237000-56237400	Enhancers	NHEK	skin
36	chr12:56237000-56237400	Enhancers	NHLF	lung
37	chr12:56237000-56237600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:56237000-56239400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:56237000-56240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:56237000-56240800	Weak transcription	A549	lung
41	chr12:56237000-56241000	Weak transcription	Ovary	ovary
42	chr12:56237000-56241400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:56237000-56241400	Weak transcription	Fetal Lung	lung
44	chr12:56237200-56237400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:56237200-56237400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:56237200-56237400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:56237200-56237400	Enhancers	Adipose Nuclei	Adipose
48	chr12:56237200-56237400	Enhancers	Osteobl	bone
49	chr12:56237200-56238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:56237200-56238800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links