Variant report

Variant	rs192020093
Chromosome Location	chr11:9159938-9159939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:9159820-9159970	GM06990	blood:	n/a	n/a
2	POLR2A	chr11:9157947-9160285	K562	blood:	n/a	n/a
3	POLR2A	chr11:9159248-9160216	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:9159056-9161161	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr11:9159078-9160114	A549	lung:	n/a	n/a
6	TCF12	chr11:9159525-9161083	ECC-1	luminal epithelium:	n/a	chr11:9160011-9160018
7	CTCF	chr11:9159800-9159950	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr11:9159820-9159970	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr11:9159920-9160070	HBMEC	blood vessel:	n/a	n/a
10	ZNF143	chr11:9159858-9160065	Hela-S3	cervix:	n/a	chr11:9159991-9160009
11	EP300	chr11:9159385-9161084	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:9159775-9160331	K562	blood:	n/a	n/a
13	CTCF	chr11:9159800-9159950	HVMF	connective:	n/a	n/a
14	CTCF	chr11:9159860-9160010	HCT-116	colon:	n/a	n/a
15	CTCF	chr11:9159900-9160170	BJ	skin:	n/a	n/a
16	CTCF	chr11:9159900-9160050	NHLF	lung:	n/a	n/a
17	CTCF	chr11:9159880-9160030	HCM	heart:	n/a	n/a
18	POLR2A	chr11:9159890-9160121	K562	blood:	n/a	n/a

No data

(count:5 , 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:
5	chr11:9041862..9044730-chr11:9157486..9160225,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCUBE2	TF binding region
ENSG00000175348	Chromatin interaction
ENSG00000264984	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000213538	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:123 , 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	chr11:9150600-9160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:9151800-9160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:9152200-9160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:9152600-9160200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:9153000-9160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:9153600-9160600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:9153600-9164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:9154200-9160000	Weak transcription	Left Ventricle	heart
17	chr11:9154600-9160000	Strong transcription	HSMM	muscle
18	chr11:9154600-9160600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:9155000-9163000	Weak transcription	Psoas Muscle	Psoas
20	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9155600-9161200	Weak transcription	Fetal Kidney	kidney
22	chr11:9156000-9163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
24	chr11:9157000-9160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:9157400-9160800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:9158400-9160200	Strong transcription	HSMMtube	muscle
29	chr11:9158400-9160800	Enhancers	Pancreas	Pancrea
30	chr11:9158400-9161000	Enhancers	Gastric	stomach
31	chr11:9158400-9164600	Strong transcription	GM12878-XiMat	blood
32	chr11:9158600-9160200	Strong transcription	Fetal Stomach	stomach
33	chr11:9158600-9165600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:9158800-9160000	Genic enhancers	Brain Angular Gyrus	brain
35	chr11:9158800-9160800	Enhancers	Colonic Mucosa	Colon
36	chr11:9158800-9161200	Enhancers	Stomach Mucosa	stomach
37	chr11:9158800-9161800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:9158800-9162400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:9158800-9162400	Genic enhancers	A549	lung
40	chr11:9158800-9162600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9158800-9165000	Strong transcription	Fetal Brain Female	brain
42	chr11:9158800-9166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:9158800-9166600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:9159000-9160000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:9159000-9160200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:9159000-9160200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:9159000-9160200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:9159000-9160200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:9159000-9160200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:9159000-9160200	Enhancers	Primary T helper cells PMA-I stimulated	--

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