Variant report

Variant	rs533566628
Chromosome Location	chr11:73053662-73053663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr11:73053383-73053662	A549	lung:	n/a	n/a
2	CTCF	chr11:73053632-73053670	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:73053659-73053740	MCF-7	breast:	n/a	n/a
4	MAX	chr11:73053651-73054481	H1-hESC	embryonic stem cell:	n/a	chr11:73053846-73053855
5	MXI1	chr11:73053271-73056008	SK-N-SH	brain:	n/a	n/a
6	MYC	chr11:73053625-73053890	MCF-7	breast:	n/a	chr11:73053846-73053855
7	ZNF263	chr11:73052807-73053986	HEK293-T-REx	kidney:	n/a	chr11:73053924-73053933 chr11:73053401-73053410

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73053649-73053699	CMK	blood:	n/a
2	chr11:73053649-73053699	GM06990	blood:	n/a
3	chr11:73053649-73053699	K562	blood:	n/a
4	chr11:73053649-73053699	GM12892	blood:	n/a
5	chr11:73053649-73053699	NHDF-neo	bronchial:	n/a
6	chr11:73053649-73053699	PrEC	prostate:	n/a
7	chr11:73053649-73053699	PFSK-1	brain:	n/a
8	chr11:73053649-73053699	AoSMC	blood vessel:	n/a
9	chr11:73053649-73053699	HIPEpiC	eye:	n/a
10	chr11:73053649-73053699	RPTEC	kidney:	n/a
11	chr11:73053649-73053699	HCF	heart:	n/a
12	chr11:73053649-73053699	Hepatocyte	liver:	n/a
13	chr11:73053649-73053699	MCF-7	breast:	n/a
14	chr11:73053649-73053699	Hela-S3	cervix:	n/a
15	chr11:73053649-73053699	HL-60	blood:	n/a
16	chr11:73053649-73053699	ProgFib	skin:	n/a
17	chr11:73053649-73053699	MCF10A-Er-Src	breast:	n/a
18	chr11:73053649-73053699	HRCEpiC	kidney:	n/a
19	chr11:73053649-73053699	HRE	kidney:	n/a
20	chr11:73053649-73053699	NH-A	brain:	n/a
21	chr11:73053649-73053699	T-47D	breast:	n/a
22	chr11:73053649-73053699	SK-N-MC	brain:	n/a
23	chr11:73053649-73053699	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:73053649-73053699	NB4	blood:	n/a
25	chr11:73053649-73053699	AG04450	lung:	fetal
26	chr11:73053649-73053699	HNPCEpiC	eye:	n/a
27	chr11:73053649-73053699	A549	lung:	n/a
28	chr11:73053649-73053699	HMEC	breast:	n/a
29	chr11:73053649-73053699	SK-N-SH_RA	brain:	n/a
30	chr11:73053649-73053699	AG09309	skin:	n/a
31	chr11:73053649-73053699	GM19239	blood:	n/a
32	chr11:73053649-73053699	ovcar-3	ovarian:	n/a
33	chr11:73053649-73053699	AG09319	gingival:	n/a
34	chr11:73053649-73053699	Jurkat	blood:	n/a
35	chr11:73053649-73053699	HCPEpiC	choroid plexus:	n/a
36	chr11:73053649-73053699	LNCaP	prostate:	n/a
37	chr11:73053649-73053699	HAEpiC	amniotic membrane:	n/a
38	chr11:73053649-73053699	HRPEpiC	eye:	n/a
39	chr11:73053649-73053699	PANC-1	pancreas:	n/a
40	chr11:73053649-73053699	H1-hESC	embryonic stem cell:	embryo
41	chr11:73053649-73053699	HEK293	kidney:	embryo
42	chr11:73053649-73053699	GM12891	blood:	n/a
43	chr11:73053649-73053699	HCT-116	colon:	n/a
44	chr11:73053649-73053699	SKMC	muscle:	n/a
45	chr11:73053649-73053699	SK-N-SH	brain:	n/a
46	chr11:73053649-73053699	IMR90	lung:	fetal
47	chr11:73053649-73053699	HepG2	liver:	n/a
48	chr11:73053649-73053699	NT2-D1	testis:	n/a
49	chr11:73053649-73053699	U87	brain:	n/a
50	chr11:73053649-73053699	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
2	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
3	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:
4	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF17	TF binding region
ARHGEF17	CpG island
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3341893	chr11:73052929-73055477	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73051200-73053800	Strong transcription	HepG2	liver
10	chr11:73051400-73055400	Weak transcription	HMEC	breast
11	chr11:73052000-73054200	Weak transcription	Placenta	Placenta
12	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:73052600-73054200	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:73052600-73056000	Enhancers	Fetal Heart	heart
15	chr11:73052800-73053800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:73052800-73054800	Enhancers	Liver	Liver
17	chr11:73052800-73056200	Enhancers	Lung	lung
18	chr11:73053000-73054200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73053000-73055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:73053200-73053800	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr11:73053200-73053800	Enhancers	Gastric	stomach
22	chr11:73053200-73054000	Enhancers	HSMM	muscle
23	chr11:73053200-73054200	Genic enhancers	Osteobl	bone
24	chr11:73053200-73056200	Enhancers	NHDF-Ad	bronchial
25	chr11:73053200-73056800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:73053400-73053800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr11:73053400-73053800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:73053400-73053800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr11:73053400-73053800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr11:73053400-73053800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:73053400-73053800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:73053400-73053800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:73053400-73053800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:73053400-73053800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr11:73053400-73053800	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr11:73053400-73053800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr11:73053400-73053800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:73053400-73053800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:73053400-73053800	Flanking Active TSS	Colonic Mucosa	Colon
40	chr11:73053400-73053800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr11:73053400-73053800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:73053400-73053800	Flanking Active TSS	Pancreas	Pancrea
43	chr11:73053400-73053800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr11:73053400-73053800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr11:73053400-73053800	Enhancers	HUVEC	blood vessel
46	chr11:73053400-73053800	Bivalent Enhancer	NHEK	skin
47	chr11:73053400-73054000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr11:73053400-73054000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:73053400-73054000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:73053400-73054000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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