Variant report

Variant	rs12300386
Chromosome Location	chr12:49625998-49625999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49624204..49632381-chr12:49656851..49664182,36	K562	blood:
2	chr12:49504257..49506648-chr12:49625633..49628380,2	MCF-7	breast:
3	chr12:49617947..49619571-chr12:49625520..49628045,3	K562	blood:
4	chr12:49582901..49584858-chr12:49624494..49626461,2	MCF-7	breast:
5	chr12:49617947..49619523-chr12:49625520..49627493,2	K562	blood:
6	chr12:49624371..49632888-chr12:49655742..49664182,29	K562	blood:
7	chr12:49609630..49611481-chr12:49625309..49626819,2	K562	blood:
8	chr12:49518847..49527600-chr12:49624546..49632235,69	K562	blood:
9	chr12:49625768..49629972-chr12:49657225..49660229,8	MCF-7	breast:
10	chr12:49451583..49453949-chr12:49625558..49628294,2	K562	blood:
11	chr12:49218140..49220739-chr12:49625372..49627807,2	K562	blood:
12	chr12:49612799..49614334-chr12:49623991..49626335,2	K562	blood:
13	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
14	chr12:49579518..49583719-chr12:49624804..49628256,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047512	1.00[AMR][1000 genomes]
rs10047588	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1109811	1.00[AMR][1000 genomes]
rs11168925	1.00[AMR][1000 genomes]
rs11168927	1.00[AMR][1000 genomes]
rs11168928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168938	1.00[AMR][1000 genomes]
rs11168939	1.00[AMR][1000 genomes]
rs11168940	1.00[AMR][1000 genomes]
rs11168942	1.00[AMR][1000 genomes]
rs12296231	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296536	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297433	1.00[AMR][1000 genomes]
rs12300998	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304483	1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12309028	1.00[AMR][1000 genomes]
rs12314967	1.00[AMR][1000 genomes]
rs12318666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322876	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758893	1.00[AMR][1000 genomes]
rs9804936	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
2	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:49619800-49627200	Weak transcription	Lung	lung
4	chr12:49620000-49626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:49622800-49627000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:49623000-49627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:49623400-49627000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:49623800-49626200	Enhancers	K562	blood
9	chr12:49624000-49626000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:49624000-49626800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:49624000-49628400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr12:49624600-49626600	Weak transcription	Right Atrium	heart
13	chr12:49624600-49626800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:49624800-49626400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:49624800-49626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:49624800-49627000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:49625400-49626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49625400-49626400	Enhancers	Fetal Heart	heart
19	chr12:49625400-49626800	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:49625400-49626800	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:49625600-49626000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:49625600-49626000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:49625600-49626000	Enhancers	Brain Anterior Caudate	brain
24	chr12:49625600-49626000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:49625600-49626000	Flanking Active TSS	Fetal Brain Female	brain
26	chr12:49625600-49626200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:49625600-49626200	Enhancers	Spleen	Spleen
28	chr12:49625600-49626400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:49625600-49626400	Enhancers	Brain Substantia Nigra	brain
30	chr12:49625600-49626600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:49625600-49626600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:49625600-49626600	Enhancers	Primary B cells from cord blood	blood
33	chr12:49625600-49626600	Enhancers	Brain Angular Gyrus	brain
34	chr12:49625600-49626600	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:49625600-49626600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr12:49625600-49626600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:49625600-49626600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:49625600-49626600	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:49625600-49626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:49625600-49626800	Enhancers	Fetal Stomach	stomach
41	chr12:49625600-49626800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:49625600-49627000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49625600-49627600	Enhancers	Aorta	Aorta
44	chr12:49625600-49627800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:49625600-49627800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:49625600-49628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:49625600-49628200	Flanking Active TSS	HSMMtube	muscle
48	chr12:49625600-49628400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:49625600-49628400	Enhancers	Placenta	Placenta
50	chr12:49625800-49626000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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