Variant report

Variant	rs533509427
Chromosome Location	chr11:18727445-18727446
allele	-/C
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	chr11:18726940-18727485	HCT-116	colon:	n/a	n/a
2	POLR2A	chr11:18727381-18727571	MCF-7	breast:	n/a	n/a
3	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	n/a	n/a
4	HMGN3	chr11:18727320-18727767	K562	blood:	n/a	n/a
5	POLR2A	chr11:18727241-18727699	K562	blood:	n/a	n/a
6	MAX	chr11:18727211-18727800	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr11:18727060-18727485	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18725792..18727506-chr11:18741119..18743990,2	MCF-7	breast:
2	chr11:18721312..18723604-chr11:18725131..18727597,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254966	TF binding region
ENSG00000151117	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3342768	chr11:18726926-18729124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18726400-18727600	Flanking Active TSS	Stomach Mucosa	stomach
2	chr11:18726600-18727600	Flanking Active TSS	Fetal Heart	heart
3	chr11:18726800-18727600	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr11:18726800-18727600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:18726800-18727600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:18726800-18727600	Flanking Active TSS	Fetal Brain Male	brain
7	chr11:18726800-18727600	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr11:18726800-18727800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr11:18726800-18727800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr11:18726800-18728600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:18727000-18727600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr11:18727000-18727600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr11:18727000-18727600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr11:18727000-18727600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:18727000-18727600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr11:18727000-18727600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr11:18727000-18727600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr11:18727000-18727600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:18727000-18727600	Flanking Active TSS	Fetal Brain Female	brain
23	chr11:18727000-18727600	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr11:18727000-18727600	Flanking Active TSS	Ovary	ovary
25	chr11:18727000-18727600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:18727000-18727600	Flanking Active TSS	Right Atrium	heart
27	chr11:18727000-18727600	Enhancers	Small Intestine	intestine
28	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Osteobl	bone
30	chr11:18727000-18727800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:18727000-18727800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:18727000-18727800	Flanking Active TSS	Colonic Mucosa	Colon
33	chr11:18727000-18727800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr11:18727000-18728000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr11:18727000-18728800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:18727000-18728800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:18727000-18728800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:18727000-18729000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:18727000-18729000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:18727200-18727600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr11:18727200-18727600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:18727200-18727600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:18727200-18727600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr11:18727200-18727600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr11:18727200-18727600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:18727200-18727600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:18727200-18727600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:18727200-18727600	Flanking Active TSS	Liver	Liver

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