Variant report

Variant	rs190089943
Chromosome Location	chr12:26274205-26274206
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	POLR2A	chr12:26274154-26275369	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:26274089-26279927	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
SSPN	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3407309	chr12:26274110-26277058	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267400-26274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:26268000-26274600	Weak transcription	Right Ventricle	heart
4	chr12:26268000-26274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
6	chr12:26268200-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:26269600-26274800	Weak transcription	Left Ventricle	heart
8	chr12:26269800-26274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26270200-26274400	Weak transcription	NHDF-Ad	bronchial
10	chr12:26270400-26274600	Weak transcription	HSMMtube	muscle
11	chr12:26270600-26274400	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:26270600-26274600	Weak transcription	Fetal Heart	heart
13	chr12:26270600-26274600	Weak transcription	HSMM	muscle
14	chr12:26270800-26274400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:26271400-26274600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:26272200-26274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:26272600-26274800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr12:26272800-26274600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:26273000-26274400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:26273400-26274400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr12:26273400-26274400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:26273400-26274600	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:26273400-26275000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:26273400-26280000	Active TSS	Right Atrium	heart
29	chr12:26273600-26274400	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:26273600-26274600	Active TSS	Brain Hippocampus Middle	brain
31	chr12:26273600-26275000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:26273600-26275000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr12:26273600-26276000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
35	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
36	chr12:26273800-26275000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr12:26273800-26275000	Weak transcription	Esophagus	oesophagus
38	chr12:26273800-26275000	Flanking Active TSS	HMEC	breast
39	chr12:26273800-26275800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr12:26274000-26274400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr12:26274000-26274400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr12:26274000-26274600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr12:26274000-26274600	Active TSS	Brain Cingulate Gyrus	brain
44	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
45	chr12:26274200-26274400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:26274200-26274400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:26274200-26274400	Enhancers	Aorta	Aorta
48	chr12:26274200-26274400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr12:26274200-26274600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr12:26274200-26274600	Active TSS	Adipose Nuclei	Adipose

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