Variant report

Variant	rs200378176
Chromosome Location	chr12:123796273-123796274
allele	A/C
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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers 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 miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123771600-123799800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123772400-123799800	Strong transcription	Fetal Stomach	stomach
3	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:123772800-123821000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:123773000-123835200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:123773200-123830600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:123773200-123834200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:123773200-123835000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:123773200-123835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123773200-123838000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123773400-123797800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:123773400-123811600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123773400-123812400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:123773400-123826200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:123773400-123826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123773400-123826600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:123773400-123835000	Strong transcription	Fetal Thymus	thymus
18	chr12:123773400-123835400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123773400-123837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:123773600-123816000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123773600-123830800	Strong transcription	Placenta	Placenta
22	chr12:123773600-123835200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:123773600-123835400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:123773800-123798200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:123773800-123798400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:123773800-123826200	Strong transcription	Adipose Nuclei	Adipose
27	chr12:123773800-123826200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:123773800-123834800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:123773800-123837200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123773800-123837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:123774000-123798600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:123774000-123802800	Strong transcription	Osteobl	bone
33	chr12:123774000-123820600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123774000-123821600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:123774000-123835000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:123774000-123835200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:123774000-123835400	Strong transcription	Dnd41	blood
38	chr12:123774400-123821200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:123774600-123822200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:123775000-123797200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:123775400-123798600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123775600-123812200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123775600-123835400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:123775800-123821000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:123776000-123797600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr12:123776200-123804000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:123776200-123826000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:123776200-123830600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:123776400-123835000	Strong transcription	Thymus	Thymus
50	chr12:123776600-123834400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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