Variant report

Variant	rs550021924
Chromosome Location	chr11:66058742-66058743
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	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
2	REST	chr11:66058477-66058802	K562	blood:	n/a	n/a
3	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
4	ZNF143	chr11:66058697-66058937	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:66055102-66058883	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
2	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
3	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
4	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
5	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

Variant related genes	Relation type
YIF1A	TF binding region
TMEM151A	TF binding region
ENSG00000254458	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174903	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66057000-66058800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:66057200-66058800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:66057400-66059000	Weak transcription	Aorta	Aorta
5	chr11:66057600-66058800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:66057600-66058800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:66057600-66058800	Enhancers	Gastric	stomach
8	chr11:66057600-66059000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66057600-66059000	Enhancers	Right Ventricle	heart
10	chr11:66057800-66058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:66057800-66059000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr11:66057800-66059000	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr11:66057800-66059000	Weak transcription	Lung	lung
14	chr11:66057800-66059200	Weak transcription	Ovary	ovary
15	chr11:66058000-66058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:66058000-66059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:66058000-66059000	Weak transcription	Esophagus	oesophagus
18	chr11:66058000-66059000	Weak transcription	Left Ventricle	heart
19	chr11:66058000-66059000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:66058000-66059000	Weak transcription	Right Atrium	heart
21	chr11:66058200-66058800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr11:66058200-66058800	Bivalent Enhancer	HepG2	liver
23	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:66058400-66058800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:66058400-66058800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:66058400-66058800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:66058400-66058800	Active TSS	Brain Hippocampus Middle	brain
28	chr11:66058400-66059200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
32	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
34	chr11:66058600-66058800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:66058600-66058800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr11:66058600-66058800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr11:66058600-66058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:66058600-66059000	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr11:66058600-66059000	Enhancers	Pancreas	Pancrea
40	chr11:66058600-66059000	Enhancers	A549	lung
41	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta
43	chr11:66058600-66060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain

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