Variant report

Variant	rs73399267
Chromosome Location	chr12:117099776-117099777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117099623..117100620-chr2:42587817..42588707,2	NB4	blood:

Variant related genes	Relation type
ENSG00000115944	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58382373	0.82[AMR][1000 genomes]
rs60656302	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299368	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399270	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962169	0.84[AMR][1000 genomes]
rs7962186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980530	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3357908	chr12:117097394-117099942	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
3	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
7	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
10	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
16	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:117096800-117100400	Weak transcription	HSMM	muscle
20	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:117097000-117099800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:117097000-117099800	Weak transcription	Fetal Lung	lung
23	chr12:117097000-117100000	Weak transcription	Fetal Brain Female	brain
24	chr12:117097000-117100000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:117097000-117100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:117097000-117100200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117097000-117100200	Weak transcription	HSMMtube	muscle
28	chr12:117097000-117100400	Weak transcription	Esophagus	oesophagus
29	chr12:117097000-117100400	Enhancers	Pancreas	Pancrea
30	chr12:117097200-117099800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:117097800-117100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:117098000-117100400	Weak transcription	Thymus	Thymus
33	chr12:117098000-117101200	Enhancers	Lung	lung
34	chr12:117098200-117099800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:117098200-117099800	Weak transcription	Ovary	ovary
36	chr12:117098200-117100000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:117098200-117100000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:117098200-117100200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:117098200-117100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:117098200-117100200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:117098200-117100200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:117098200-117100200	Weak transcription	Gastric	stomach
43	chr12:117098200-117100200	Weak transcription	NHDF-Ad	bronchial
44	chr12:117098200-117100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:117098400-117100000	Weak transcription	Fetal Brain Male	brain
46	chr12:117098400-117100400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:117098400-117100600	Weak transcription	A549	lung
48	chr12:117098400-117101400	Weak transcription	Hela-S3	cervix
49	chr12:117099200-117099800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:117099200-117101000	Enhancers	Fetal Thymus	thymus

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