Variant report

Variant	rs7313394
Chromosome Location	chr12:21681230-21681231
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	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv557743	chr12:21670410-21688900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21679800-21681400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr12:21679800-21681400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:21679800-21681600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:21680000-21681400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:21680000-21681400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:21680000-21681400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:21680000-21681400	Flanking Active TSS	Liver	Liver
8	chr12:21680000-21681400	Active TSS	Brain Anterior Caudate	brain
9	chr12:21680000-21681400	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:21680000-21681400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:21680000-21681400	Active TSS	Right Ventricle	heart
12	chr12:21680000-21681400	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr12:21680200-21681400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:21680200-21681400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:21680200-21681400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr12:21680200-21681400	Active TSS	Brain Hippocampus Middle	brain
17	chr12:21680200-21681400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:21680200-21681400	Active TSS	Right Atrium	heart
19	chr12:21680200-21681400	Active TSS	HSMMtube	muscle
20	chr12:21680200-21681400	Active TSS	NH-A	brain
21	chr12:21680400-21681400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:21680400-21681400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:21680400-21681400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:21680400-21681400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:21680400-21681400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr12:21680400-21681400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr12:21680400-21682200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr12:21680600-21681400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:21680800-21681400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:21680800-21681400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:21681000-21681400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr12:21681000-21681400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:21681000-21681400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:21681000-21681400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:21681000-21681400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr12:21681000-21681400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr12:21681000-21681400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
43	chr12:21681000-21681400	Flanking Active TSS	Osteobl	bone
44	chr12:21681200-21681400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
45	chr12:21681200-21681400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:21681200-21681400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:21681200-21681400	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:21681200-21681400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr12:21681200-21681400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:21681200-21681400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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