Variant report

Variant	rs545858142
Chromosome Location	chr11:9160322-9160323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9160124-9160335	K562	blood:	n/a	n/a
2	TCF7L2	chr11:9160177-9161260	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:9160294-9160972	HUVEC	blood vessel:	n/a	n/a
4	TCF12	chr11:9160218-9161211	A549	lung:	n/a	n/a
5	MAX	chr11:9160306-9161249	HCT-116	colon:	n/a	n/a
6	FOSL1	chr11:9160298-9161049	HCT-116	colon:	n/a	n/a
7	MAX	chr11:9160140-9161247	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr11:9160307-9161034	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr11:9159056-9161161	PANC-1	pancreas:	n/a	n/a
10	TCF12	chr11:9159525-9161083	ECC-1	luminal epithelium:	n/a	chr11:9160011-9160018
11	TCF7L2	chr11:9160271-9161640	Hela-S3	cervix:	n/a	n/a
12	ZNF217	chr11:9160255-9160918	MCF-7	breast:	n/a	n/a
13	GATA3	chr11:9160236-9161069	A549	lung:	n/a	n/a
14	POLR2A	chr11:9160115-9161010	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:9159978-9160920	PANC-1	pancreas:	n/a	n/a
16	JUND	chr11:9160300-9161061	HCT-116	colon:	n/a	n/a
17	EP300	chr11:9160045-9160985	ECC-1	luminal epithelium:	n/a	n/a
18	FOXM1	chr11:9159988-9160939	ECC-1	luminal epithelium:	n/a	n/a
19	MXI1	chr11:9160048-9161171	IMR90	lung:	n/a	n/a
20	MXI1	chr11:9160223-9160895	Hela-S3	cervix:	n/a	n/a
21	EP300	chr11:9159385-9161084	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr11:9159775-9160331	K562	blood:	n/a	n/a
23	NFIC	chr11:9159989-9161104	ECC-1	luminal epithelium:	n/a	n/a
24	NFIC	chr11:9160060-9160949	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr11:9160280-9160430	HPAF	blood vessel:	n/a	n/a
26	TEAD4	chr11:9160086-9160957	ECC-1	luminal epithelium:	n/a	n/a
27	SP1	chr11:9160298-9160957	HCT-116	colon:	n/a	n/a
28	TCF12	chr11:9159963-9161256	ECC-1	luminal epithelium:	n/a	chr11:9160011-9160018
29	ZBTB7A	chr11:9159981-9160400	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr11:9160267-9160977	SK-N-SH	brain:	n/a	n/a
31	JUND	chr11:9160309-9161066	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
2	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
3	chr11:9036789..9038692-chr11:9159866..9161634,2	MCF-7	breast:
4	chr11:8983863..8986997-chr11:9158044..9162292,6	MCF-7	breast:

No data

Variant related genes	Relation type
SCUBE2	TF binding region
ENSG00000254860	Chromatin interaction
ENSG00000213538	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000264984	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
2	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
5	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9151800-9160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:9152200-9160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:9153600-9160600	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:9153600-9164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:9154600-9160600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9155000-9163000	Weak transcription	Psoas Muscle	Psoas
15	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:9155600-9161200	Weak transcription	Fetal Kidney	kidney
17	chr11:9156000-9163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
19	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:9157400-9160800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:9158400-9160800	Enhancers	Pancreas	Pancrea
23	chr11:9158400-9161000	Enhancers	Gastric	stomach
24	chr11:9158400-9164600	Strong transcription	GM12878-XiMat	blood
25	chr11:9158600-9165600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr11:9158800-9160800	Enhancers	Colonic Mucosa	Colon
27	chr11:9158800-9161200	Enhancers	Stomach Mucosa	stomach
28	chr11:9158800-9161800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:9158800-9162400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:9158800-9162400	Genic enhancers	A549	lung
31	chr11:9158800-9162600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:9158800-9165000	Strong transcription	Fetal Brain Female	brain
33	chr11:9158800-9166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:9158800-9166600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:9159000-9160600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:9159000-9160800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:9159000-9161200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:9159000-9161200	Genic enhancers	Fetal Lung	lung
39	chr11:9159000-9161400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:9159000-9162000	Enhancers	HMEC	breast
41	chr11:9159000-9162200	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr11:9159000-9162400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:9159000-9162400	Genic enhancers	HepG2	liver
44	chr11:9159000-9163200	Genic enhancers	HUVEC	blood vessel
45	chr11:9159000-9168000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:9159000-9169400	Strong transcription	Fetal Intestine Small	intestine
47	chr11:9159000-9170200	Genic enhancers	Brain Hippocampus Middle	brain
48	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:9159200-9161000	Weak transcription	Primary B cells from cord blood	blood
50	chr11:9159200-9161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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