Variant report

Variant	rs528319866
Chromosome Location	chr11:18727243-18727244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:18727186-18727299	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:18726940-18727485	HCT-116	colon:	n/a	n/a
3	CTCF	chr11:18727241-18727272	MCF-7	breast:	n/a	n/a
4	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	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	CTCF	chr11:18727160-18727310	SAEC	small airway:	n/a	n/a
8	CTCF	chr11:18727168-18727290	NHEK	skin:	n/a	n/a
9	CTCF	chr11:18727180-18727330	HMEC	breast:	n/a	n/a
10	RAD21	chr11:18727060-18727485	HCT-116	colon:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

No data

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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18721000-18727400	Weak transcription	Aorta	Aorta
2	chr11:18722000-18727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:18726400-18727400	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr11:18726400-18727600	Flanking Active TSS	Stomach Mucosa	stomach
5	chr11:18726600-18727600	Flanking Active TSS	Fetal Heart	heart
6	chr11:18726800-18727400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:18726800-18727400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:18726800-18727400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:18726800-18727400	Enhancers	Gastric	stomach
10	chr11:18726800-18727600	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr11:18726800-18727600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:18726800-18727600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:18726800-18727600	Flanking Active TSS	Fetal Brain Male	brain
14	chr11:18726800-18727600	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr11:18726800-18727800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr11:18726800-18727800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr11:18726800-18728600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr11:18727000-18727400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
19	chr11:18727000-18727400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr11:18727000-18727400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr11:18727000-18727400	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr11:18727000-18727400	Bivalent Enhancer	Placenta	Placenta
23	chr11:18727000-18727600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:18727000-18727600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:18727000-18727600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:18727000-18727600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:18727000-18727600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:18727000-18727600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:18727000-18727600	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:18727000-18727600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:18727000-18727600	Flanking Active TSS	Fetal Brain Female	brain
35	chr11:18727000-18727600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr11:18727000-18727600	Flanking Active TSS	Ovary	ovary
37	chr11:18727000-18727600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:18727000-18727600	Flanking Active TSS	Right Atrium	heart
39	chr11:18727000-18727600	Enhancers	Small Intestine	intestine
40	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	NHEK	skin
41	chr11:18727000-18727600	Flanking Bivalent TSS/Enh	Osteobl	bone
42	chr11:18727000-18727800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:18727000-18727800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:18727000-18727800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr11:18727000-18727800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr11:18727000-18728000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:18727000-18728800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:18727000-18728800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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