Variant report

Variant	rs190121114
Chromosome Location	chr11:72310728-72310729
allele	G/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	CTCF	chr11:72309585-72311360	A549	lung:	n/a	chr11:72310140-72310156 chr11:72310139-72310157 chr11:72309760-72309767 chr11:72310141-72310162 chr11:72310142-72310155
2	SMARCC1	chr11:72310023-72311124	Hela-S3	cervix:	n/a	chr11:72310556-72310565
3	POLR2A	chr11:72310670-72310763	Hela-S3	cervix:	n/a	n/a
4	FOSL2	chr11:72310212-72310799	A549	lung:	n/a	chr11:72310555-72310565 chr11:72310555-72310565 chr11:72310556-72310565 chr11:72310554-72310566 chr11:72310555-72310565 chr11:72310555-72310565

No.	Distal block	Cell Line	Cell type
1	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:
2	chr11:72310603..72311371-chr11:72394905..72395850,2	MCF-7	breast:
3	chr11:72309579..72311274-chr11:72353556..72354810,14	MCF-7	breast:
4	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
5	chr11:72310686..72313140-chr11:72320651..72322680,2	K562	blood:
6	chr11:72310660..72312266-chr11:72342413..72344790,2	MCF-7	breast:
7	chr11:72309672..72310907-chr11:72353574..72354733,7	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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
2	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
3	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
4	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
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	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
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription 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
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	esv3401549	chr11:72310710-72313204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72303600-72313600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:72304600-72316600	Weak transcription	Left Ventricle	heart
3	chr11:72305800-72310800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:72306400-72315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:72306800-72311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:72308400-72312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:72310000-72310800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:72310000-72311200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:72310200-72310800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr11:72310200-72310800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:72310200-72311000	Enhancers	Hela-S3	cervix
12	chr11:72310200-72311000	Enhancers	HSMM	muscle
13	chr11:72310200-72311000	Enhancers	HSMMtube	muscle
14	chr11:72310200-72311200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:72310200-72311600	Enhancers	Brain Anterior Caudate	brain
16	chr11:72310200-72312000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:72310200-72312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:72310400-72310800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:72310400-72310800	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr11:72310400-72311000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr11:72310400-72311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:72310400-72312000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:72310400-72312000	Enhancers	A549	lung
24	chr11:72310400-72312400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:72310400-72312800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:72310400-72316800	Weak transcription	Colonic Mucosa	Colon
27	chr11:72310600-72311400	Strong transcription	Fetal Brain Female	brain
28	chr11:72310600-72312000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:72310600-72312000	Genic enhancers	Spleen	Spleen
30	chr11:72310600-72316000	Weak transcription	Right Ventricle	heart

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