Variant report

Variant	rs542125674
Chromosome Location	chr11:63534029-63534030
allele	A/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	chr11:63533982-63534285	HepG2	liver:	n/a	chr11:63534216-63534229
2	HEY1	chr11:63533927-63534234	HepG2	liver:	n/a	n/a
3	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
4	SP1	chr11:63534022-63534403	HepG2	liver:	n/a	chr11:63534238-63534250 chr11:63534239-63534249 chr11:63534239-63534249
5	HDAC2	chr11:63534006-63534371	HepG2	liver:	n/a	n/a
6	EP300	chr11:63533944-63534320	HepG2	liver:	n/a	chr11:63534115-63534131
7	FOXA2	chr11:63534000-63534296	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:63533973-63534414	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:63533831-63534083	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXA1	chr11:63533985-63534280	HepG2	liver:	n/a	n/a
11	HNF4G	chr11:63533998-63534305	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
2	chr11:63533005..63535080-chr11:63601950..63603947,2	MCF-7	breast:
3	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
4	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
5	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
6	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
7	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
8	chr11:63437417..63439651-chr11:63532413..63534182,2	MCF-7	breast:
9	chr1:89566099..89566939-chr11:63533954..63534897,2	MCF-7	breast:

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000133318	Chromatin interaction
ENSG00000184743	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:63521200-63534600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:63521400-63534400	Weak transcription	Primary B cells from cord blood	blood
8	chr11:63521400-63534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:63525000-63534400	Weak transcription	HSMMtube	muscle
10	chr11:63525800-63534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:63526200-63534600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:63526600-63534800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:63526600-63534800	Weak transcription	Small Intestine	intestine
14	chr11:63528000-63534200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:63528000-63534200	Weak transcription	Fetal Kidney	kidney
16	chr11:63528400-63534600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:63528800-63534400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:63529200-63534400	Enhancers	Fetal Brain Male	brain
19	chr11:63529200-63534400	Weak transcription	K562	blood
20	chr11:63529200-63534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:63529200-63534800	Weak transcription	Primary T cells from cord blood	blood
22	chr11:63529200-63534800	Enhancers	Fetal Heart	heart
23	chr11:63529400-63534400	Weak transcription	Osteobl	bone
24	chr11:63529400-63534800	Enhancers	Fetal Lung	lung
25	chr11:63529600-63534400	Weak transcription	NHDF-Ad	bronchial
26	chr11:63531000-63534200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:63531200-63534400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:63531200-63534400	Weak transcription	NHEK	skin
29	chr11:63531200-63534800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:63531200-63534800	Weak transcription	Esophagus	oesophagus
31	chr11:63531200-63534800	Weak transcription	Left Ventricle	heart
32	chr11:63531400-63534800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:63531400-63535000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:63531600-63534200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:63531800-63534400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:63532000-63534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:63532200-63534400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:63532200-63534600	Enhancers	A549	lung
39	chr11:63532400-63534200	Enhancers	Brain Anterior Caudate	brain
40	chr11:63532400-63535000	Flanking Active TSS	HepG2	liver
41	chr11:63532600-63534200	Weak transcription	Lung	lung
42	chr11:63532600-63534400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:63532600-63534400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:63532600-63534400	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:63532600-63534600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:63532600-63535000	Weak transcription	Gastric	stomach
47	chr11:63532600-63535200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:63532800-63534200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:63532800-63534600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:63532800-63534800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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