Variant report

Variant	rs569260034
Chromosome Location	chr11:102219407-102219408
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

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	chr11:102216630-102219427	PBDE	blood:	n/a	n/a
3	HCFC1	chr11:102217253-102219500	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
3	chr11:102187104..102190463-chr11:102217868..102220185,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIRC2-1	chr11:102219329-102219744	NONHSAT023879

No data

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000023445	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102216200-102219600	Active TSS	A549	lung
2	chr11:102216400-102219600	Active TSS	K562	blood
3	chr11:102216400-102219600	Active TSS	NHLF	lung
4	chr11:102216600-102219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:102216600-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:102216600-102219800	Active TSS	NHDF-Ad	bronchial
7	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:102216800-102219600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:102216800-102219600	Active TSS	Fetal Brain Female	brain
12	chr11:102216800-102219600	Active TSS	HSMM	muscle
13	chr11:102216800-102220000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:102216800-102220000	Active TSS	Right Atrium	heart
15	chr11:102217000-102219600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:102217000-102219600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:102217000-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:102217000-102219800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:102217000-102219800	Active TSS	Fetal Thymus	thymus
20	chr11:102217000-102220000	Active TSS	Thymus	Thymus
21	chr11:102217000-102221600	Active TSS	GM12878-XiMat	blood
22	chr11:102217200-102219600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:102217200-102219600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:102217200-102219600	Active TSS	Fetal Intestine Large	intestine
25	chr11:102217200-102219600	Active TSS	Fetal Stomach	stomach
26	chr11:102217200-102219600	Active TSS	HMEC	breast
27	chr11:102217400-102219800	Active TSS	NH-A	brain
28	chr11:102218400-102219600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:102218600-102219600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:102218600-102219800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:102218600-102220000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:102218600-102220200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:102218800-102219600	Active TSS	HepG2	liver
34	chr11:102218800-102219800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:102218800-102219800	Flanking Active TSS	Dnd41	blood
36	chr11:102218800-102219800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:102218800-102220000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:102218800-102220000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
40	chr11:102219000-102219600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:102219000-102219600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:102219000-102219600	Flanking Active TSS	Liver	Liver
43	chr11:102219000-102219600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:102219000-102220000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:102219000-102221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:102219000-102231600	Weak transcription	Gastric	stomach
47	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:102219200-102219600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:102219200-102219600	Active TSS	Fetal Muscle Leg	muscle
50	chr11:102219200-102219800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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