Variant report

Variant	rs10778450
Chromosome Location	chr12:106214293-106214294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10732669	0.87[CHB][hapmap];0.84[LWK][hapmap];0.89[YRI][hapmap]
rs10778446	0.87[CHB][hapmap]
rs11112748	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4509866	0.87[CHB][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap]
rs4964411	0.87[CHB][hapmap]
rs4964418	0.82[ASN][1000 genomes]
rs4964419	0.82[ASN][1000 genomes]
rs747855	0.91[ASN][1000 genomes]
rs747856	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954604	0.87[CHB][hapmap];0.89[YRI][hapmap]
rs7968132	0.85[CHB][hapmap];0.86[YRI][hapmap]
rs9634227	0.87[CHB][hapmap]
rs9634228	0.87[CHB][hapmap]

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	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:106207000-106214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:106207400-106215400	Weak transcription	Fetal Stomach	stomach
3	chr12:106207400-106216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:106208200-106215600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:106209000-106214600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:106209000-106214600	Weak transcription	Fetal Thymus	thymus
7	chr12:106212400-106215400	Enhancers	Liver	Liver
8	chr12:106212400-106216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:106212600-106216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:106212600-106217000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:106212800-106215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:106212800-106216000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:106213000-106215000	Enhancers	Fetal Lung	lung
14	chr12:106213000-106215800	Weak transcription	Lung	lung
15	chr12:106213600-106214600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:106213800-106215800	Enhancers	Brain Hippocampus Middle	brain
17	chr12:106213800-106217000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:106214000-106214400	Enhancers	Brain Angular Gyrus	brain
19	chr12:106214000-106214400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:106214000-106214400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:106214000-106214400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:106214000-106214400	Flanking Active TSS	HSMMtube	muscle
23	chr12:106214000-106214800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:106214000-106214800	Enhancers	Brain Anterior Caudate	brain
25	chr12:106214000-106214800	Enhancers	Spleen	Spleen
26	chr12:106214000-106214800	Enhancers	NHDF-Ad	bronchial
27	chr12:106214000-106215000	Enhancers	Right Ventricle	heart
28	chr12:106214000-106215400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:106214000-106215400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:106214000-106215600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:106214000-106215600	Enhancers	HSMM	muscle
32	chr12:106214000-106215800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:106214000-106216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:106214000-106216000	Enhancers	Adipose Nuclei	Adipose
35	chr12:106214000-106216000	Enhancers	Aorta	Aorta
36	chr12:106214000-106216000	Enhancers	Right Atrium	heart
37	chr12:106214000-106216000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:106214000-106216200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:106214000-106216200	Enhancers	Psoas Muscle	Psoas
40	chr12:106214000-106216200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:106214200-106214400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:106214200-106214400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:106214200-106214400	Enhancers	Placenta	Placenta
44	chr12:106214200-106214600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:106214200-106214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:106214200-106214800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:106214200-106215000	Enhancers	Fetal Muscle Leg	muscle
48	chr12:106214200-106215000	Enhancers	HMEC	breast
49	chr12:106214200-106215200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:106214200-106215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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