Variant report

Variant	rs11830005
Chromosome Location	chr12:49625504-49625505
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49624204..49632381-chr12:49656851..49664182,36	K562	blood:
2	chr12:49622947..49625680-chr12:49657482..49660290,3	MCF-7	breast:
3	chr12:49582901..49584858-chr12:49624494..49626461,2	MCF-7	breast:
4	chr12:49624371..49632888-chr12:49655742..49664182,29	K562	blood:
5	chr12:49609630..49611481-chr12:49625309..49626819,2	K562	blood:
6	chr12:49518847..49527600-chr12:49624546..49632235,69	K562	blood:
7	chr12:49218140..49220739-chr12:49625372..49627807,2	K562	blood:
8	chr12:49612799..49614334-chr12:49623991..49626335,2	K562	blood:
9	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
10	chr12:49579518..49583719-chr12:49624804..49628256,4	K562	blood:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11168942	1.00[EUR][1000 genomes]
rs73304171	1.00[AMR][1000 genomes]
rs73304194	1.00[AMR][1000 genomes]
rs73306211	1.00[AMR][1000 genomes]
rs73307931	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
3	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
5	chr12:49617600-49625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:49617600-49625800	Weak transcription	NHDF-Ad	bronchial
7	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:49619800-49627200	Weak transcription	Lung	lung
9	chr12:49620000-49626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:49622000-49625600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49622000-49625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:49622000-49625600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:49622000-49625600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:49622000-49625600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:49622000-49625800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:49622200-49625600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:49622200-49625600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:49622600-49625600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:49622600-49625600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:49622600-49625600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:49622800-49625600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:49622800-49625600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:49622800-49627000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:49623000-49627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:49623400-49627000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:49623600-49625800	Enhancers	Fetal Brain Male	brain
27	chr12:49623800-49626200	Enhancers	K562	blood
28	chr12:49624000-49625600	Enhancers	HSMMtube	muscle
29	chr12:49624000-49625800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:49624000-49626000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:49624000-49626800	Enhancers	Fetal Muscle Leg	muscle
32	chr12:49624000-49628400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:49624200-49625800	Weak transcription	Fetal Lung	lung
34	chr12:49624400-49625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:49624600-49625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:49624600-49625800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:49624600-49625800	Enhancers	HSMM	muscle
38	chr12:49624600-49626600	Weak transcription	Right Atrium	heart
39	chr12:49624600-49626800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:49624800-49625600	Weak transcription	Primary B cells from cord blood	blood
41	chr12:49624800-49625800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:49624800-49626400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:49624800-49626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:49624800-49627000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:49625200-49625600	Enhancers	Brain Germinal Matrix	brain
46	chr12:49625200-49625600	Enhancers	Fetal Brain Female	brain
47	chr12:49625400-49626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:49625400-49626400	Enhancers	Fetal Heart	heart
49	chr12:49625400-49626800	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:49625400-49626800	Enhancers	Fetal Muscle Trunk	muscle

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