Variant report

Variant	rs566233743
Chromosome Location	chr3:51704075-51704076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:51703960-51704110	HCM	heart:	n/a	n/a
2	POLR2A	chr3:51703237-51704163	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:51703916-51704202	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:51703923-51704313	HepG2	liver:	n/a	n/a
5	CTCF	chr3:51702691-51704450	SK-N-SH	brain:	n/a	chr3:51703461-51703474 chr3:51703465-51703474 chr3:51703462-51703472 chr3:51703454-51703475 chr3:51703459-51703477
6	MAX	chr3:51703240-51704083	K562	blood:	n/a	chr3:51703379-51703389
7	CTCF	chr3:51703940-51704090	NHEK	skin:	n/a	n/a
8	CTCF	chr3:51704040-51704190	WERI-Rb-1	eye:	n/a	n/a
9	POLR2A	chr3:51701652-51704100	K562	blood:	n/a	n/a
10	MXI1	chr3:51703826-51706344	IMR90	lung:	n/a	chr3:51705117-51705132 chr3:51705119-51705134
11	POLR2A	chr3:51703920-51704209	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51532457..51535099-chr3:51703667..51706623,4	MCF-7	breast:
2	chr3:51532560..51534895-chr3:51704003..51706915,3	K562	blood:
3	chr3:51703488..51706346-chr3:51714334..51716919,2	MCF-7	breast:
4	chr3:51689639..51691996-chr3:51702378..51704180,2	K562	blood:
5	chr3:51694128..51695719-chr3:51702275..51704283,2	K562	blood:
6	chr3:51532096..51536424-chr3:51702408..51707498,7	K562	blood:
7	chr3:51702918..51706936-chr3:51707889..51711767,6	MCF-7	breast:

Variant related genes	Relation type
TEX264	TF binding region
ENSG00000145041	Chromatin interaction
ENSG00000164081	Chromatin interaction

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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv965167	chr3:51702892-51707059	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr3:51682200-51704400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51690800-51704400	Weak transcription	HUVEC	blood vessel
3	chr3:51694200-51704800	Weak transcription	Psoas Muscle	Psoas
4	chr3:51694400-51704400	Weak transcription	Fetal Brain Male	brain
5	chr3:51694400-51704600	Weak transcription	NHDF-Ad	bronchial
6	chr3:51696200-51704400	Weak transcription	Fetal Kidney	kidney
7	chr3:51696600-51704200	Weak transcription	Small Intestine	intestine
8	chr3:51697200-51704600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:51697400-51704400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:51697400-51704400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:51697400-51704600	Weak transcription	Left Ventricle	heart
12	chr3:51697400-51704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:51697400-51704800	Weak transcription	Aorta	Aorta
14	chr3:51697600-51704400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:51697800-51704400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:51697800-51704600	Weak transcription	HSMM	muscle
17	chr3:51698000-51704800	Weak transcription	Ovary	ovary
18	chr3:51698200-51704600	Weak transcription	NH-A	brain
19	chr3:51698400-51704400	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:51698400-51704600	Weak transcription	HSMMtube	muscle
21	chr3:51699400-51704400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:51699800-51704400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:51699800-51704400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:51700000-51704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:51700000-51704400	Weak transcription	Fetal Intestine Large	intestine
26	chr3:51700000-51704600	Weak transcription	Fetal Brain Female	brain
27	chr3:51700600-51704600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:51701200-51704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:51701200-51704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:51701800-51704600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:51702000-51704600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:51702400-51704600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:51702400-51704600	Weak transcription	Fetal Stomach	stomach
34	chr3:51702600-51704400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:51702800-51704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:51702800-51704400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:51702800-51704400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:51702800-51704400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr3:51702800-51704400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:51702800-51704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:51702800-51704400	Enhancers	Dnd41	blood
42	chr3:51702800-51704400	Enhancers	HMEC	breast
43	chr3:51702800-51704400	Enhancers	NHEK	skin
44	chr3:51702800-51704600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr3:51702800-51704600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:51702800-51704600	Enhancers	Liver	Liver
47	chr3:51702800-51704600	Enhancers	Fetal Muscle Trunk	muscle
48	chr3:51702800-51704600	Enhancers	Fetal Thymus	thymus
49	chr3:51702800-51704600	Enhancers	Stomach Mucosa	stomach
50	chr3:51702800-51704600	Enhancers	K562	blood

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