Variant report

Variant	rs544255766
Chromosome Location	chr12:12256228-12256229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv976579	chr12:12253001-12266723	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528912	chr12:12253591-12266041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
2	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
3	chr12:12235400-12260200	Weak transcription	Gastric	stomach
4	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:12240600-12256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:12241200-12256800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:12242000-12257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:12245600-12257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:12245600-12260400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:12245600-12260400	Weak transcription	Fetal Brain Female	brain
18	chr12:12245600-12260600	Weak transcription	Psoas Muscle	Psoas
19	chr12:12245800-12256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:12245800-12256600	Weak transcription	Lung	lung
21	chr12:12245800-12260400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:12245800-12260400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:12245800-12260600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
25	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:12246000-12256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:12246200-12260400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:12246200-12260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:12246400-12257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:12246400-12272000	Weak transcription	Osteobl	bone
31	chr12:12247600-12261400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
33	chr12:12248400-12260800	Weak transcription	Hela-S3	cervix
34	chr12:12248400-12261000	Weak transcription	NH-A	brain
35	chr12:12248800-12256600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:12248800-12256600	Weak transcription	Fetal Stomach	stomach
37	chr12:12249400-12256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:12250000-12261400	Weak transcription	Primary T cells from cord blood	blood
39	chr12:12250800-12260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:12251000-12256600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:12251200-12260600	Weak transcription	Right Atrium	heart
42	chr12:12251600-12259600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:12252200-12259800	Weak transcription	NHLF	lung
44	chr12:12252400-12256600	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:12252400-12260400	Weak transcription	HSMM	muscle
46	chr12:12252400-12260800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:12252400-12260800	Weak transcription	Fetal Lung	lung
48	chr12:12252800-12276200	Weak transcription	Fetal Heart	heart
49	chr12:12253800-12261400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:12254000-12256400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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