Variant report

Variant	rs565104652
Chromosome Location	chr3:46923585-46923586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr3:46923526-46923722	K562	blood:	n/a	chr3:46923533-46923543 chr3:46923533-46923546 chr3:46923613-46923626
2	CTBP2	chr3:46922694-46924513	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr3:46923473-46923842	K562	blood:	n/a	chr3:46923533-46923543 chr3:46923533-46923546 chr3:46923613-46923626
4	MAZ	chr3:46923276-46924587	IMR90	lung:	n/a	chr3:46924575-46924585
5	ZBTB7A	chr3:46923158-46923696	K562	blood:	n/a	n/a
6	UBTF	chr3:46923292-46924415	K562	blood:	n/a	n/a
7	ZBTB7A	chr3:46923273-46923677	K562	blood:	n/a	n/a
8	ZBTB7A	chr3:46923151-46923686	ECC-1	luminal epithelium:	n/a	n/a
9	UBTF	chr3:46923406-46924245	K562	blood:	n/a	n/a
10	MAZ	chr3:46923480-46924335	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46923546-46923596	K562	blood:	n/a
2	chr3:46923546-46923596	HAEpiC	amniotic membrane:	n/a
3	chr3:46923546-46923596	NT2-D1	testis:	n/a
4	chr3:46923546-46923596	ECC-1	luminal epithelium:	n/a
5	chr3:46923546-46923596	SK-N-MC	brain:	n/a
6	chr3:46923546-46923596	MCF10A-Er-Src	breast:	n/a
7	chr3:46923546-46923596	AG04449	skin:	fetal
8	chr3:46923546-46923596	U87	brain:	n/a
9	chr3:46923546-46923596	HCF	heart:	n/a
10	chr3:46923546-46923596	GM12892	blood:	n/a
11	chr3:46923546-46923596	HL-60	blood:	n/a
12	chr3:46923546-46923596	H1-hESC	embryonic stem cell:	embryo
13	chr3:46923546-46923596	HEEpiC	esophagus:	n/a
14	chr3:46923546-46923596	PFSK-1	brain:	n/a
15	chr3:46923546-46923596	NH-A	brain:	n/a
16	chr3:46923546-46923596	HRE	kidney:	n/a
17	chr3:46923546-46923596	HIPEpiC	eye:	n/a
18	chr3:46923546-46923596	ovcar-3	ovarian:	n/a
19	chr3:46923546-46923596	AG09319	gingival:	n/a
20	chr3:46923546-46923596	SK-N-SH_RA	brain:	n/a
21	chr3:46923546-46923596	AG04450	lung:	fetal
22	chr3:46923546-46923596	AoSMC	blood vessel:	n/a
23	chr3:46923546-46923596	PANC-1	pancreas:	n/a
24	chr3:46923546-46923596	NB4	blood:	n/a
25	chr3:46923546-46923596	Jurkat	blood:	n/a
26	chr3:46923546-46923596	HCPEpiC	choroid plexus:	n/a
27	chr3:46923546-46923596	A549	lung:	n/a
28	chr3:46923546-46923596	HCM	heart:	n/a
29	chr3:46923546-46923596	GM19239	blood:	n/a
30	chr3:46923546-46923596	HEK293	kidney:	embryo
31	chr3:46923546-46923596	SKMC	muscle:	n/a
32	chr3:46923546-46923596	SK-N-SH	brain:	n/a
33	chr3:46923546-46923596	NHDF-neo	bronchial:	n/a
34	chr3:46923546-46923596	GM06990	blood:	n/a
35	chr3:46923546-46923596	AG09309	skin:	n/a
36	chr3:46923546-46923596	HCT-116	colon:	n/a
37	chr3:46923546-46923596	T-47D	breast:	n/a
38	chr3:46923546-46923596	AG10803	skin:	n/a
39	chr3:46923546-46923596	HUVEC	blood vessel:	n/a
40	chr3:46923546-46923596	HRPEpiC	eye:	n/a
41	chr3:46923546-46923596	CMK	blood:	n/a
42	chr3:46923546-46923596	NHBE	bronchial:	n/a
43	chr3:46923546-46923596	BJ	skin:	n/a
44	chr3:46923546-46923596	HepG2	liver:	n/a
45	chr3:46923546-46923596	GM12878	blood:	n/a
46	chr3:46923546-46923596	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:46923546-46923596	IMR90	lung:	fetal
48	chr3:46923546-46923596	Hela-S3	cervix:	n/a
49	chr3:46923546-46923596	HRCEpiC	kidney:	n/a
50	chr3:46923546-46923596	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:46917376..46920621-chr3:46922888..46926605,5	K562	blood:
2	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
3	chr3:46923291..46931131-chr3:46931662..46935716,9	K562	blood:
4	chr3:46921853..46924302-chr3:46929528..46931190,2	K562	blood:

No data

Variant related genes	Relation type
PTH1R	TF binding region
PTH1R	CpG island
ENSG00000160801	Chromatin interaction
ENSG00000268537	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	esv3438687	chr3:46922473-46925321	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3358362	chr3:46922648-46924896	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3344281	chr3:46923473-46926321	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46920400-46923800	Weak transcription	Liver	Liver
2	chr3:46922400-46924000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:46922400-46925000	Active TSS	Fetal Kidney	kidney
4	chr3:46922400-46925400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
5	chr3:46922600-46923600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
6	chr3:46922600-46924000	Active TSS	Left Ventricle	heart
7	chr3:46922600-46925000	Active TSS	Pancreas	Pancrea
8	chr3:46922600-46925200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:46922600-46925200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:46922600-46925400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:46922600-46925400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:46922600-46925400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:46922600-46925600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr3:46922600-46926000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:46922800-46923600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr3:46922800-46923600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr3:46922800-46924000	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr3:46922800-46924000	Active TSS	Right Ventricle	heart
19	chr3:46922800-46925000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:46922800-46925200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:46922800-46925200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:46922800-46925200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:46922800-46925200	Active TSS	Placenta Amnion	Placenta Amnion
24	chr3:46922800-46925400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr3:46922800-46925600	Active TSS	Brain Cingulate Gyrus	brain
26	chr3:46923000-46923600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:46923000-46923600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:46923000-46923600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr3:46923000-46923600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr3:46923000-46923600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:46923000-46923800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr3:46923000-46923800	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr3:46923000-46924000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:46923000-46924000	Enhancers	Primary B cells from cord blood	blood
35	chr3:46923000-46924000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:46923000-46924000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:46923000-46924000	Active TSS	Brain Anterior Caudate	brain
38	chr3:46923000-46924000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr3:46923000-46924200	Active TSS	Brain Angular Gyrus	brain
40	chr3:46923000-46924200	Bivalent Enhancer	Fetal Brain Male	brain
41	chr3:46923000-46924600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:46923000-46925200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:46923000-46925200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:46923000-46925200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr3:46923000-46925400	Active TSS	Aorta	Aorta
46	chr3:46923000-46925600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
47	chr3:46923200-46923600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr3:46923200-46923600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr3:46923200-46923600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:46923200-46923600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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