Variant report

Variant	rs12320787
Chromosome Location	chr12:104855553-104855554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11112067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322339	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1343928	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382371	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382373	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382376	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104850800-104855800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:104852000-104855600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr12:104852400-104855600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:104852800-104857400	Weak transcription	Psoas Muscle	Psoas
5	chr12:104853000-104855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:104853200-104855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104853200-104855600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:104853200-104856600	Weak transcription	Left Ventricle	heart
9	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:104853400-104856600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:104853400-104862200	Weak transcription	Gastric	stomach
12	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
13	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
14	chr12:104853600-104855600	Enhancers	HUVEC	blood vessel
15	chr12:104853600-104856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:104853600-104856400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:104853600-104856600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104853600-104856800	Weak transcription	Fetal Stomach	stomach
19	chr12:104853600-104858200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:104853600-104858800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:104853800-104855600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:104853800-104855600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:104853800-104855600	Enhancers	HMEC	breast
25	chr12:104853800-104856600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104853800-104856800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:104854000-104856600	Weak transcription	A549	lung
29	chr12:104854000-104857600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:104854200-104856200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:104854200-104856600	Weak transcription	NHEK	skin
32	chr12:104854200-104862600	Weak transcription	Fetal Brain Female	brain
33	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:104854400-104855600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:104854400-104855600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:104854400-104855600	Flanking Active TSS	Thymus	Thymus
37	chr12:104854600-104855600	Flanking Active TSS	GM12878-XiMat	blood
38	chr12:104854600-104856800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:104854800-104855600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:104854800-104858800	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:104855000-104859200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:104855200-104855600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:104855200-104855600	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:104855200-104856200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:104855200-104856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:104855200-104856400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:104855200-104856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104855200-104856600	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:104855200-104856600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:104855200-104856600	Weak transcription	Lung	lung

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