Variant report

Variant	rs113067619
Chromosome Location	chr12:29885771-29885772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv528476	chr12:29884553-29895535	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
5	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
6	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
8	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:29879800-29886200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:29879800-29886600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
14	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:29881400-29885800	Weak transcription	Spleen	Spleen
17	chr12:29881400-29887200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:29881400-29890600	Weak transcription	Ovary	ovary
19	chr12:29881600-29890000	Weak transcription	Lung	lung
20	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:29882200-29888600	Enhancers	Fetal Muscle Leg	muscle
22	chr12:29882400-29885800	Enhancers	Fetal Stomach	stomach
23	chr12:29882600-29886000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:29882600-29887200	Enhancers	Fetal Heart	heart
25	chr12:29882600-29888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:29882600-29889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:29883000-29886000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:29883400-29885800	Enhancers	Adipose Nuclei	Adipose
29	chr12:29883400-29886000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:29883600-29888600	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr12:29883600-29888800	Enhancers	Fetal Brain Female	brain
32	chr12:29883800-29885800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:29884400-29888600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:29884400-29891600	Weak transcription	HSMMtube	muscle
35	chr12:29884800-29887400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:29885000-29886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:29885000-29887600	Enhancers	HMEC	breast
38	chr12:29885000-29889200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:29885200-29885800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:29885200-29885800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:29885200-29885800	Enhancers	Fetal Lung	lung
42	chr12:29885200-29886000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:29885200-29886200	Enhancers	NH-A	brain
44	chr12:29885200-29886400	Enhancers	HUVEC	blood vessel
45	chr12:29885200-29886400	Enhancers	NHEK	skin
46	chr12:29885200-29886400	Enhancers	Osteobl	bone
47	chr12:29885200-29887600	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:29885200-29888000	Enhancers	Fetal Brain Male	brain
49	chr12:29885400-29886400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:29885400-29886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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