Variant report

Variant	rs144638399
Chromosome Location	chr12:29884902-29884903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29882421..29885325-chr12:29889009..29890831,2	MCF-7	breast:

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:57 , 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	chr12:29868000-29885000	Weak transcription	HMEC	breast
4	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
8	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
10	chr12:29879600-29885200	Weak transcription	Fetal Lung	lung
11	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:29879800-29885200	Weak transcription	Osteobl	bone
14	chr12:29879800-29886200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:29879800-29886600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:29880000-29885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:29880000-29885200	Weak transcription	HUVEC	blood vessel
19	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
20	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:29880800-29885600	Enhancers	Psoas Muscle	Psoas
22	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:29881400-29885800	Weak transcription	Spleen	Spleen
24	chr12:29881400-29887200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:29881400-29890600	Weak transcription	Ovary	ovary
26	chr12:29881600-29890000	Weak transcription	Lung	lung
27	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:29881800-29885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:29882200-29888600	Enhancers	Fetal Muscle Leg	muscle
30	chr12:29882400-29885800	Enhancers	Fetal Stomach	stomach
31	chr12:29882600-29885400	Weak transcription	Right Ventricle	heart
32	chr12:29882600-29886000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:29882600-29887200	Enhancers	Fetal Heart	heart
34	chr12:29882600-29888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:29882600-29889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:29882800-29885600	Weak transcription	Right Atrium	heart
37	chr12:29883000-29885600	Weak transcription	Left Ventricle	heart
38	chr12:29883000-29886000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:29883400-29885000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:29883400-29885800	Enhancers	Adipose Nuclei	Adipose
41	chr12:29883400-29886000	Weak transcription	Brain Anterior Caudate	brain
42	chr12:29883600-29885600	Weak transcription	Hela-S3	cervix
43	chr12:29883600-29888600	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr12:29883600-29888800	Enhancers	Fetal Brain Female	brain
45	chr12:29883800-29885200	Weak transcription	NH-A	brain
46	chr12:29883800-29885400	Weak transcription	HSMM	muscle
47	chr12:29883800-29885800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:29884000-29885200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:29884400-29885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:29884400-29888600	Weak transcription	Fetal Muscle Trunk	muscle

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