Variant report

Variant	rs553554917
Chromosome Location	chr12:11925686-11925687
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv469114	chr12:11916908-11929481	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557575	chr12:11916908-11929481	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
3	chr12:11914400-11925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:11915400-11938000	Weak transcription	NHEK	skin
5	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:11919400-11926800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:11919400-11935000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:11919600-11926800	Weak transcription	Psoas Muscle	Psoas
10	chr12:11919600-11927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:11919600-11932000	Weak transcription	HSMM	muscle
12	chr12:11919600-11936200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:11919600-11936800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:11919800-11926600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:11919800-11927600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:11919800-11929400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:11919800-11931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:11919800-11932400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:11920000-11926400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:11920000-11927800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:11920000-11929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:11920000-11931800	Weak transcription	HSMMtube	muscle
23	chr12:11920000-11937800	Weak transcription	NHLF	lung
24	chr12:11920200-11926600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:11920600-11926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:11921000-11925800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:11921000-11926800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:11921200-11930800	Weak transcription	Fetal Lung	lung
29	chr12:11921200-11931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:11921400-11926400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:11921400-11927200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:11921400-11927200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:11921600-11926600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:11921600-11927000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:11921800-11926600	Weak transcription	Gastric	stomach
36	chr12:11921800-11926800	Weak transcription	Small Intestine	intestine
37	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:11922000-11926400	Weak transcription	Liver	Liver
39	chr12:11922000-11926800	Weak transcription	HepG2	liver
40	chr12:11922000-11928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:11922000-11929000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
43	chr12:11923000-11926600	Weak transcription	Aorta	Aorta
44	chr12:11923000-11928000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:11923200-11926600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:11923200-11926600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:11923200-11927600	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:11923400-11926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:11923400-11926600	Weak transcription	Placenta	Placenta
50	chr12:11923400-11926600	Weak transcription	Lung	lung

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