Variant report

Variant	rs12814893
Chromosome Location	chr12:49181479-49181480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49181248-49181796	ECC-1	luminal epithelium:	n/a	n/a
2	ZNF263	chr12:49180877-49181818	HEK293-T-REx	kidney:	n/a	chr12:49181483-49181504 chr12:49181494-49181503 chr12:49181451-49181460
3	MXI1	chr12:49180368-49183259	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49179602..49181773-chr12:49197914..49199450,2	K562	blood:
2	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
3	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
4	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
5	chr12:49180246..49182305-chr12:49186657..49190531,5	MCF-7	breast:
6	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
7	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
8	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
9	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257660	TF binding region
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11168749	1.00[ASN][1000 genomes]
rs11168751	1.00[ASN][1000 genomes]
rs12369114	1.00[ASN][1000 genomes]
rs2453467	1.00[ASN][1000 genomes]
rs34014405	1.00[ASN][1000 genomes]
rs36000595	1.00[ASN][1000 genomes]
rs3730308	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638074	1.00[ASN][1000 genomes]
rs55916159	1.00[ASN][1000 genomes]
rs73104702	1.00[ASN][1000 genomes]
rs7315024	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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49172200-49181600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:49175800-49181600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:49179600-49181600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:49179800-49181600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:49180000-49181600	Enhancers	Lung	lung
6	chr12:49180200-49181800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:49180400-49181600	Enhancers	Stomach Mucosa	stomach
8	chr12:49180400-49182000	Enhancers	Spleen	Spleen
9	chr12:49180400-49182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr12:49180400-49182400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr12:49180600-49181800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:49180600-49182200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49180600-49182200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:49180800-49181600	Enhancers	Placenta	Placenta
15	chr12:49180800-49181800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49180800-49181800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:49180800-49181800	Flanking Active TSS	Esophagus	oesophagus
18	chr12:49180800-49181800	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr12:49180800-49182000	Flanking Active TSS	Osteobl	bone
20	chr12:49180800-49182200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:49180800-49182200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr12:49180800-49182200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:49180800-49182200	Flanking Active TSS	Hela-S3	cervix
24	chr12:49180800-49182400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:49181000-49181600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:49181000-49181600	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr12:49181000-49181600	Flanking Active TSS	NH-A	brain
29	chr12:49181000-49181800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:49181000-49181800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:49181000-49181800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:49181000-49181800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr12:49181000-49181800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:49181000-49181800	Flanking Active TSS	Left Ventricle	heart
35	chr12:49181000-49181800	Flanking Active TSS	Ovary	ovary
36	chr12:49181000-49181800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr12:49181000-49181800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr12:49181000-49181800	Flanking Active TSS	Right Ventricle	heart
39	chr12:49181000-49181800	Flanking Active TSS	NHLF	lung
40	chr12:49181000-49182000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:49181000-49182000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:49181000-49182000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:49181000-49182000	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr12:49181000-49182000	Flanking Active TSS	Colonic Mucosa	Colon
45	chr12:49181000-49182000	Flanking Active TSS	Pancreas	Pancrea
46	chr12:49181000-49182000	Flanking Active TSS	HepG2	liver
47	chr12:49181000-49182200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:49181000-49182200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:49181000-49182200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr12:49181000-49182200	Flanking Active TSS	Fetal Brain Female	brain

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