Variant report

Variant	rs563002896
Chromosome Location	chr11:9113447-9113448
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr11:9113248-9113713	MCF-7	breast:	n/a	chr11:9113357-9113367 chr11:9113314-9113323
2	SIN3A	chr11:9113312-9113560	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr11:9112543-9113924	ECC-1	luminal epithelium:	n/a	chr11:9113313-9113322
4	POLR2A	chr11:9113278-9113464	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9113406-9113456	GM12892	blood:	n/a
2	chr11:9113406-9113456	IMR90	lung:	fetal
3	chr11:9113406-9113456	GM06990	blood:	n/a
4	chr11:9113406-9113456	HRPEpiC	eye:	n/a
5	chr11:9113406-9113456	AG10803	skin:	n/a
6	chr11:9113406-9113456	SK-N-SH	brain:	n/a
7	chr11:9113406-9113456	HAEpiC	amniotic membrane:	n/a
8	chr11:9113406-9113456	MCF10A-Er-Src	breast:	n/a
9	chr11:9113406-9113456	HIPEpiC	eye:	n/a
10	chr11:9113406-9113456	ECC-1	luminal epithelium:	n/a
11	chr11:9113406-9113456	SK-N-MC	brain:	n/a
12	chr11:9113406-9113456	HEEpiC	esophagus:	n/a
13	chr11:9113406-9113456	HepG2	liver:	n/a
14	chr11:9113406-9113456	NB4	blood:	n/a
15	chr11:9113406-9113456	Jurkat	blood:	n/a
16	chr11:9113406-9113456	K562	blood:	n/a
17	chr11:9113406-9113456	GM19239	blood:	n/a
18	chr11:9113406-9113456	PrEC	prostate:	n/a
19	chr11:9113406-9113456	MCF-7	breast:	n/a
20	chr11:9113406-9113456	SKMC	muscle:	n/a
21	chr11:9113406-9113456	NHDF-neo	bronchial:	n/a
22	chr11:9113406-9113456	HRCEpiC	kidney:	n/a
23	chr11:9113406-9113456	HUVEC	blood vessel:	n/a
24	chr11:9113406-9113456	Hela-S3	cervix:	n/a
25	chr11:9113406-9113456	ProgFib	skin:	n/a
26	chr11:9113406-9113456	A549	lung:	n/a
27	chr11:9113406-9113456	GM12891	blood:	n/a
28	chr11:9113406-9113456	HNPCEpiC	eye:	n/a
29	chr11:9113406-9113456	HCT-116	colon:	n/a
30	chr11:9113406-9113456	CMK	blood:	n/a
31	chr11:9113406-9113456	PFSK-1	brain:	n/a
32	chr11:9113406-9113456	LNCaP	prostate:	n/a
33	chr11:9113406-9113456	BJ	skin:	n/a
34	chr11:9113406-9113456	ovcar-3	ovarian:	n/a
35	chr11:9113406-9113456	AG09309	skin:	n/a
36	chr11:9113406-9113456	Caco-2	colon:	n/a
37	chr11:9113406-9113456	SK-N-SH_RA	brain:	n/a
38	chr11:9113406-9113456	AG04449	skin:	fetal
39	chr11:9113406-9113456	AG04450	lung:	fetal
40	chr11:9113406-9113456	AG09319	gingival:	n/a
41	chr11:9113406-9113456	HMEC	breast:	n/a
42	chr11:9113406-9113456	HCPEpiC	choroid plexus:	n/a
43	chr11:9113406-9113456	T-47D	breast:	n/a
44	chr11:9113406-9113456	NHBE	bronchial:	n/a
45	chr11:9113406-9113456	HCF	heart:	n/a
46	chr11:9113406-9113456	RPTEC	kidney:	n/a
47	chr11:9113406-9113456	HL-60	blood:	n/a
48	chr11:9113406-9113456	HEK293	kidney:	embryo
49	chr11:9113406-9113456	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:9113406-9113456	AoSMC	blood vessel:	n/a

(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	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
3	chr11:9113356..9115182-chr11:9141033..9143763,3	MCF-7	breast:
4	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
5	chr11:9109535..9113708-chr11:9115640..9120311,8	MCF-7	breast:

No data

Variant related genes	Relation type
MIR5691	TF binding region
SCUBE2	TF binding region
KRT8P41	TF binding region
KRT8P41	CpG island
SCUBE2	CpG island
MIR5691	CpG island
ENSG00000213538	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000166483	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	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	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv3404280	chr11:9111401-9114249	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	esv3451461	chr11:9112126-9114374	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9111400-9113800	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr11:9112200-9113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:9112200-9113600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:9112200-9113600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:9112200-9113600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:9112200-9113600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr11:9112200-9113800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:9112200-9113800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:9112200-9113800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:9112400-9113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:9112400-9113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr11:9112400-9113600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:9112400-9113600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:9112400-9113600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:9112400-9113600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:9112400-9113600	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:9112400-9113600	Bivalent/Poised TSS	Left Ventricle	heart
18	chr11:9112400-9113600	Active TSS	HSMM	muscle
19	chr11:9112400-9113600	Bivalent/Poised TSS	NHEK	skin
20	chr11:9112400-9113800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9112400-9113800	Active TSS	NHDF-Ad	bronchial
22	chr11:9112400-9114000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:9112600-9113600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:9112600-9113600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:9112600-9113600	Flanking Active TSS	Right Ventricle	heart
26	chr11:9112600-9113600	Active TSS	HUVEC	blood vessel
27	chr11:9112600-9113800	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:9112600-9113800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:9112600-9113800	Bivalent/Poised TSS	A549	lung
30	chr11:9112800-9113600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:9112800-9113600	Active TSS	Brain Hippocampus Middle	brain
32	chr11:9112800-9113600	Active TSS	NH-A	brain
33	chr11:9112800-9113800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:9112800-9113800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9112800-9113800	Bivalent Enhancer	Liver	Liver
36	chr11:9112800-9113800	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:9113000-9113600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:9113000-9113600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:9113000-9113600	Active TSS	Ovary	ovary
40	chr11:9113000-9113600	Bivalent Enhancer	Spleen	Spleen
41	chr11:9113000-9113800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:9113000-9113800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:9113000-9114000	Enhancers	Lung	lung
44	chr11:9113200-9113600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:9113200-9114200	Enhancers	Fetal Heart	heart
46	chr11:9113400-9113600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:9113400-9113600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:9113400-9113600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:9113400-9113600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:9113400-9113600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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