Variant report

Variant	rs551656537
Chromosome Location	chr17:46114250-46114251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46114231-46114820	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:46113875-46115007	A549	lung:	n/a	n/a
3	CTCF	chr17:46113649-46115069	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr17:46114223-46115431	ProgFib	skin:	n/a	n/a
5	CTCF	chr17:46114120-46114270	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr17:46114208-46114265	HepG2	liver:	n/a	n/a
7	REST	chr17:46114151-46114354	K562	blood:	n/a	n/a
8	POLR2A	chr17:46114197-46114884	MCF-7	breast:	n/a	n/a
9	EBF1	chr17:46114239-46114597	GM12878	blood:	n/a	n/a
10	ELF1	chr17:46114235-46114876	GM12878	blood:	n/a	n/a
11	E2F6	chr17:46114165-46114288	K562	blood:	n/a	n/a
12	TCF12	chr17:46114190-46115023	A549	lung:	n/a	n/a
13	MAX	chr17:46114154-46115029	A549	lung:	n/a	n/a
14	POLR2A	chr17:46114241-46114932	U87	brain:	n/a	n/a
15	MAX	chr17:46114067-46115700	A549	lung:	n/a	n/a
16	POLR2A	chr17:46114241-46115050	U87	brain:	n/a	n/a
17	RAD21	chr17:46114029-46114759	HepG2	liver:	n/a	chr17:46114673-46114683
18	POLR2A	chr17:46114081-46115133	IMR90	lung:	n/a	n/a
19	RCOR1	chr17:46114103-46114268	K562	blood:	n/a	n/a
20	CTCF	chr17:46114245-46114837	MCF-7	breast:	n/a	n/a
21	MYBL2	chr17:46113974-46114736	HepG2	liver:	n/a	n/a
22	RAD21	chr17:46114230-46114790	H1-hESC	embryonic stem cell:	n/a	chr17:46114673-46114683
23	CTCF	chr17:46114140-46114290	K562	blood:	n/a	n/a
24	RAD21	chr17:46114176-46114850	MCF-7	breast:	n/a	chr17:46114673-46114683
25	USF2	chr17:46114227-46114324	HepG2	liver:	n/a	n/a
26	EBF1	chr17:46114232-46114598	GM12878	blood:	n/a	n/a
27	MAX	chr17:46114068-46114371	K562	blood:	n/a	n/a
28	BCL3	chr17:46114232-46114956	A549	lung:	n/a	chr17:46114501-46114509
29	MAZ	chr17:46114232-46114684	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46114237-46114287	IMR90	lung:	fetal
2	chr17:46114237-46114287	Hepatocyte	liver:	n/a
3	chr17:46114237-46114287	HCM	heart:	n/a
4	chr17:46114237-46114287	LNCaP	prostate:	n/a
5	chr17:46114237-46114287	SAEC	small airway:	n/a
6	chr17:46114237-46114287	BJ	skin:	n/a
7	chr17:46114237-46114287	BE2_C	brain:	n/a
8	chr17:46114237-46114287	HIPEpiC	eye:	n/a
9	chr17:46114237-46114287	T-47D	breast:	n/a
10	chr17:46114237-46114287	HRPEpiC	eye:	n/a
11	chr17:46114237-46114287	HCT-116	colon:	n/a
12	chr17:46114237-46114287	GM12891	blood:	n/a
13	chr17:46114237-46114287	A549	lung:	n/a
14	chr17:46114237-46114287	PANC-1	pancreas:	n/a
15	chr17:46114237-46114287	HRCEpiC	kidney:	n/a
16	chr17:46114237-46114287	HAEpiC	amniotic membrane:	n/a
17	chr17:46114237-46114287	NHBE	bronchial:	n/a
18	chr17:46114237-46114287	RPTEC	kidney:	n/a
19	chr17:46114237-46114287	HCPEpiC	choroid plexus:	n/a
20	chr17:46114237-46114287	SKMC	muscle:	n/a
21	chr17:46114237-46114287	K562	blood:	n/a
22	chr17:46114237-46114287	AG09309	skin:	n/a
23	chr17:46114237-46114287	HL-60	blood:	n/a
24	chr17:46114237-46114287	GM12878	blood:	n/a
25	chr17:46114237-46114287	HMEC	breast:	n/a
26	chr17:46114237-46114287	HCF	heart:	n/a
27	chr17:46114237-46114287	AG04449	skin:	fetal
28	chr17:46114237-46114287	HepG2	liver:	n/a
29	chr17:46114237-46114287	PrEC	prostate:	n/a
30	chr17:46114237-46114287	MCF10A-Er-Src	breast:	n/a
31	chr17:46114237-46114287	GM19239	blood:	n/a
32	chr17:46114237-46114287	H1-hESC	embryonic stem cell:	embryo
33	chr17:46114237-46114287	NB4	blood:	n/a
34	chr17:46114237-46114287	Hela-S3	cervix:	n/a
35	chr17:46114237-46114287	NH-A	brain:	n/a
36	chr17:46114237-46114287	MCF-7	breast:	n/a
37	chr17:46114237-46114287	SK-N-SH_RA	brain:	n/a
38	chr17:46114237-46114287	SK-N-MC	brain:	n/a
39	chr17:46114237-46114287	NT2-D1	testis:	n/a
40	chr17:46114237-46114287	AoSMC	blood vessel:	n/a
41	chr17:46114237-46114287	NHDF-neo	bronchial:	n/a
42	chr17:46114237-46114287	ovcar-3	ovarian:	n/a
43	chr17:46114237-46114287	CMK	blood:	n/a
44	chr17:46114237-46114287	HRE	kidney:	n/a
45	chr17:46114237-46114287	HPAEpiC	pulmonary alveolar:	n/a
46	chr17:46114237-46114287	U87	brain:	n/a
47	chr17:46114237-46114287	HNPCEpiC	eye:	n/a
48	chr17:46114237-46114287	HEEpiC	esophagus:	n/a
49	chr17:46114237-46114287	SK-N-SH	brain:	n/a
50	chr17:46114237-46114287	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
COPZ2	TF binding region
COPZ2	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv3427892	chr17:46114053-46116401	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46113800-46114400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:46113800-46114400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:46113800-46114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:46113800-46114400	Bivalent Enhancer	Fetal Intestine Small	intestine
5	chr17:46113800-46114400	Flanking Active TSS	NHDF-Ad	bronchial
6	chr17:46113800-46114600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:46113800-46114600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:46113800-46114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr17:46114000-46114400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:46114000-46114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:46114000-46114400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr17:46114000-46114400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr17:46114000-46114400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr17:46114000-46114400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr17:46114000-46114400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr17:46114000-46114400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:46114000-46114400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr17:46114000-46114400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:46114000-46114400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr17:46114000-46114400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:46114000-46114400	Enhancers	Liver	Liver
22	chr17:46114000-46114400	Enhancers	Brain Hippocampus Middle	brain
23	chr17:46114000-46114400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
24	chr17:46114000-46114400	Enhancers	Fetal Heart	heart
25	chr17:46114000-46114400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
26	chr17:46114000-46114400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr17:46114000-46114400	Enhancers	Ovary	ovary
28	chr17:46114000-46114400	Enhancers	Pancreas	Pancrea
29	chr17:46114000-46114400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr17:46114000-46114400	Flanking Active TSS	NH-A	brain
31	chr17:46114000-46114400	Flanking Active TSS	Osteobl	bone
32	chr17:46114000-46114600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr17:46114000-46114600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr17:46114000-46114600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr17:46114000-46114600	Enhancers	K562	blood
36	chr17:46114000-46114600	Flanking Active TSS	NHLF	lung
37	chr17:46114000-46114800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:46114000-46114800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:46114000-46114800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr17:46114000-46114800	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr17:46114000-46115000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:46114000-46115400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:46114200-46114400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:46114200-46114400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:46114200-46114400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:46114200-46114400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:46114200-46114400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:46114200-46114400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr17:46114200-46114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:46114200-46114400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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