Variant report

Variant	rs544866074
Chromosome Location	chr11:72351356-72351357
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	chr11:72351225-72351472	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72350202..72352070-chr11:72353672..72355954,2	K562	blood:
2	chr11:72341497..72343932-chr11:72350783..72352444,2	K562	blood:
3	chr11:72345729..72347708-chr11:72348323..72351528,4	K562	blood:
4	chr11:72308196..72310111-chr11:72350959..72352581,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000255808	TF binding region
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3413076	chr11:72349804-72353302	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv18878	chr11:72350800-72352250	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:72348600-72352600	Enhancers	Lung	lung
4	chr11:72348800-72352800	Weak transcription	Gastric	stomach
5	chr11:72349000-72352200	Weak transcription	Pancreas	Pancrea
6	chr11:72349400-72352000	Weak transcription	Liver	Liver
7	chr11:72350200-72351400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:72350400-72352000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:72350600-72351600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr11:72350600-72352800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr11:72350800-72352000	Enhancers	Brain Substantia Nigra	brain
12	chr11:72350800-72352800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:72350800-72353000	Active TSS	Spleen	Spleen
14	chr11:72351000-72351400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
15	chr11:72351000-72351400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr11:72351000-72351400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:72351000-72351400	Flanking Active TSS	Hela-S3	cervix
18	chr11:72351000-72351600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr11:72351000-72351600	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:72351000-72351600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr11:72351000-72352400	Flanking Active TSS	Right Ventricle	heart
22	chr11:72351000-72352600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr11:72351000-72352600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr11:72351000-72352800	Active TSS	Esophagus	oesophagus
25	chr11:72351000-72353000	Active TSS	Psoas Muscle	Psoas
26	chr11:72351000-72354200	Active TSS	Left Ventricle	heart
27	chr11:72351000-72354400	Active TSS	Right Atrium	heart
28	chr11:72351200-72351400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr11:72351200-72351400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
30	chr11:72351200-72351600	Flanking Active TSS	Fetal Brain Female	brain
31	chr11:72351200-72351800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:72351200-72352200	Active TSS	HSMMtube	muscle
33	chr11:72351200-72352400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr11:72351200-72352800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr11:72351200-72353000	Flanking Active TSS	Colon Smooth Muscle	Colon

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