Variant report

Variant	rs563137071
Chromosome Location	chr12:31583627-31583628
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	RAD21	chr12:31583593-31583922	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr12:31583593-31583928	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:31583602-31584110	A549	lung:	n/a	n/a
4	TEAD4	chr12:31583621-31583913	H1-hESC	embryonic stem cell:	n/a	chr12:31583804-31583813

Variant related genes	Relation type
DENND5B	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3328930	chr12:31583197-31583671	Weak transcription Enhancers Strong transcription	TF binding region	1 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	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
3	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
4	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
7	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
8	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
9	chr12:31556200-31587200	Weak transcription	NH-A	brain
10	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
11	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:31567400-31635800	Weak transcription	Osteobl	bone
15	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:31572000-31612600	Weak transcription	HSMM	muscle
17	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
19	chr12:31572400-31589000	Weak transcription	Aorta	Aorta
20	chr12:31572400-31596000	Weak transcription	Lung	lung
21	chr12:31572400-31604800	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
25	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:31572600-31584400	Weak transcription	Fetal Kidney	kidney
27	chr12:31572600-31600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:31573400-31597600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:31573800-31584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:31574200-31595200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:31574600-31583800	Weak transcription	Fetal Stomach	stomach
32	chr12:31577000-31599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:31577400-31593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:31577600-31597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:31577600-31600200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:31578200-31599800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:31578200-31604800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:31578400-31584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31579000-31632000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:31579200-31584800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:31579200-31603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:31579200-31605000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:31579200-31605000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:31579200-31611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:31579400-31595000	Weak transcription	Liver	Liver
47	chr12:31579400-31626400	Weak transcription	Left Ventricle	heart
48	chr12:31579400-31632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:31579600-31612400	Weak transcription	Fetal Brain Female	brain
50	chr12:31579800-31584000	Weak transcription	Primary B cells from peripheral blood	blood

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