Variant report

Variant	rs376904987
Chromosome Location	chr12:42326997-42326998
allele	-/A
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	TCF12	chr12:42326047-42327017	ECC-1	luminal epithelium:	n/a	chr12:42326288-42326297
2	NFIC	chr12:42325795-42327070	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000257239	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2141246	chr12:42326869-42327313	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42323600-42327000	Active TSS	Right Atrium	heart
2	chr12:42324400-42327000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42324600-42327000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:42324600-42327000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:42324800-42327000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:42325200-42327000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42325200-42327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:42325800-42327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:42325800-42327000	Active TSS	Brain Anterior Caudate	brain
10	chr12:42325800-42327000	Active TSS	Brain Hippocampus Middle	brain
11	chr12:42325800-42327000	Active TSS	Brain Substantia Nigra	brain
12	chr12:42326000-42327000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:42326000-42327000	Active TSS	Primary T cells from cord blood	blood
14	chr12:42326000-42327000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:42326000-42327000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:42326000-42327000	Active TSS	Brain Angular Gyrus	brain
17	chr12:42326000-42327000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:42326000-42327000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:42326000-42327000	Active TSS	Ovary	ovary
20	chr12:42326000-42327000	Active TSS	Psoas Muscle	Psoas
21	chr12:42326000-42327000	Flanking Active TSS	HUVEC	blood vessel
22	chr12:42326000-42327000	Active TSS	K562	blood
23	chr12:42326000-42327400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:42326000-42327800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:42326200-42327000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:42326200-42327000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr12:42326200-42327000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:42326200-42327000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:42326200-42327000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:42326200-42327000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:42326200-42327000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:42326200-42327000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:42326200-42327000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:42326200-42327000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:42326200-42327000	Active TSS	Fetal Kidney	kidney
36	chr12:42326200-42327000	Active TSS	Fetal Lung	lung
37	chr12:42326200-42327000	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:42326200-42327000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:42326200-42327000	Active TSS	Osteobl	bone
40	chr12:42326200-42327600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:42326400-42327000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:42326400-42327000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:42326400-42327000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:42326400-42327000	Active TSS	Right Ventricle	heart
45	chr12:42326600-42327000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr12:42326600-42327000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:42326600-42327000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:42326600-42327000	Flanking Active TSS	Fetal Brain Male	brain
49	chr12:42326600-42327000	Flanking Active TSS	Fetal Brain Female	brain
50	chr12:42326600-42327000	Flanking Active TSS	Fetal Muscle Leg	muscle

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