Variant report

Variant	rs555598099
Chromosome Location	chr11:102220252-102220253
allele	-/TC
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	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:102219602-102222092	K562	blood:	n/a	n/a
3	FOXA2	chr11:102219450-102220415	HepG2	liver:	n/a	chr11:102219978-102219990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv975369	chr11:102219075-102221776	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:102217000-102221600	Active TSS	GM12878-XiMat	blood
3	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
4	chr11:102219000-102221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:102219000-102231600	Weak transcription	Gastric	stomach
6	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:102219200-102220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:102219200-102220600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:102219200-102220600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:102219200-102220600	Weak transcription	Placenta	Placenta
11	chr11:102219200-102220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:102219200-102220800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:102219200-102220800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:102219200-102220800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr11:102219200-102220800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:102219200-102220800	Weak transcription	Left Ventricle	heart
17	chr11:102219200-102220800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:102219200-102221000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:102219200-102221000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:102219200-102221200	Enhancers	Colon Smooth Muscle	Colon
21	chr11:102219200-102221200	Enhancers	Fetal Heart	heart
22	chr11:102219200-102222000	Weak transcription	Pancreas	Pancrea
23	chr11:102219200-102224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:102219200-102224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:102219200-102224200	Weak transcription	Lung	lung
26	chr11:102219200-102230200	Weak transcription	Right Ventricle	heart
27	chr11:102219200-102231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:102219200-102231600	Weak transcription	Esophagus	oesophagus
29	chr11:102219200-102231800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:102219200-102231800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:102219200-102234400	Weak transcription	Psoas Muscle	Psoas
32	chr11:102219200-102234600	Weak transcription	Ovary	ovary
33	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:102219400-102220400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:102219400-102220400	Enhancers	Rectal Smooth Muscle	rectum
37	chr11:102219400-102220400	Flanking Active TSS	Osteobl	bone
38	chr11:102219400-102220600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:102219400-102220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:102219400-102220800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:102219400-102220800	Weak transcription	HSMMtube	muscle
42	chr11:102219400-102221200	Weak transcription	Colonic Mucosa	Colon
43	chr11:102219400-102226000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:102219400-102231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:102219600-102220400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:102219600-102220400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:102219600-102220400	Enhancers	Brain Hippocampus Middle	brain
48	chr11:102219600-102220400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:102219600-102220600	Enhancers	Fetal Intestine Large	intestine
50	chr11:102219600-102220600	Weak transcription	Fetal Muscle Leg	muscle

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