Variant report

Variant	rs537980276
Chromosome Location	chr12:11143248-11143249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:11143062-11143262	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
TAS2R50	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1804419	chr12:11103505-11149830	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv898779	chr12:11134701-11174276	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv21271	chr12:11142157-11169458	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11114000-11149200	Weak transcription	GM12878-XiMat	blood
3	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:11114600-11146400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:11114600-11146800	Weak transcription	Ovary	ovary
6	chr12:11122000-11146200	Weak transcription	Left Ventricle	heart
7	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
9	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:11132000-11154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:11132400-11146200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
13	chr12:11135200-11162200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:11135600-11146000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:11136400-11146600	Weak transcription	Aorta	Aorta
16	chr12:11136400-11146600	Weak transcription	Lung	lung
17	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:11136600-11143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:11136600-11153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
23	chr12:11139000-11149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:11140200-11146600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:11140800-11152800	Weak transcription	Fetal Thymus	thymus
26	chr12:11141600-11146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:11141800-11148200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:11142200-11146600	Weak transcription	Esophagus	oesophagus
29	chr12:11142200-11151200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:11142200-11153400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:11142400-11146200	Weak transcription	Fetal Heart	heart
32	chr12:11142600-11143400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:11142600-11143400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:11142600-11143400	ZNF genes & repeats	Liver	Liver
35	chr12:11142800-11143400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:11142800-11143400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:11142800-11143600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:11142800-11143600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:11142800-11143600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr12:11142800-11143600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr12:11142800-11143600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:11142800-11143600	ZNF genes & repeats	A549	lung
43	chr12:11142800-11143800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:11142800-11143800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr12:11142800-11144600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:11142800-11146400	Weak transcription	Pancreas	Pancrea
47	chr12:11143000-11143400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr12:11143000-11143400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr12:11143000-11143400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:11143000-11143600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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