Variant report

Variant	rs565913864
Chromosome Location	chr3:46925206-46925207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:46924703-46925545	IMR90	lung:	n/a	chr3:46924951-46924961 chr3:46924948-46924957
2	UBTF	chr3:46925082-46925282	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46925181-46925231	NHDF-neo	bronchial:	n/a
2	chr3:46925181-46925231	HNPCEpiC	eye:	n/a
3	chr3:46925181-46925231	PFSK-1	brain:	n/a
4	chr3:46925181-46925231	NT2-D1	testis:	n/a
5	chr3:46925181-46925231	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:46925181-46925231	HMEC	breast:	n/a
7	chr3:46925181-46925231	HCPEpiC	choroid plexus:	n/a
8	chr3:46925181-46925231	HUVEC	blood vessel:	n/a
9	chr3:46925181-46925231	HIPEpiC	eye:	n/a
10	chr3:46925181-46925231	K562	blood:	n/a
11	chr3:46925181-46925231	BJ	skin:	n/a
12	chr3:46925181-46925231	SAEC	small airway:	n/a
13	chr3:46925181-46925231	HCM	heart:	n/a
14	chr3:46925181-46925231	ovcar-3	ovarian:	n/a
15	chr3:46925181-46925231	MCF-7	breast:	n/a
16	chr3:46925181-46925231	CMK	blood:	n/a
17	chr3:46925181-46925231	SK-N-MC	brain:	n/a
18	chr3:46925181-46925231	HRCEpiC	kidney:	n/a
19	chr3:46925181-46925231	NH-A	brain:	n/a
20	chr3:46925181-46925231	NHBE	bronchial:	n/a
21	chr3:46925181-46925231	RPTEC	kidney:	n/a
22	chr3:46925181-46925231	HepG2	liver:	n/a
23	chr3:46925181-46925231	PrEC	prostate:	n/a
24	chr3:46925181-46925231	AG10803	skin:	n/a
25	chr3:46925181-46925231	SK-N-SH	brain:	n/a
26	chr3:46925181-46925231	GM12878	blood:	n/a
27	chr3:46925181-46925231	HCF	heart:	n/a
28	chr3:46925181-46925231	Hela-S3	cervix:	n/a
29	chr3:46925181-46925231	HL-60	blood:	n/a
30	chr3:46925181-46925231	Jurkat	blood:	n/a
31	chr3:46925181-46925231	T-47D	breast:	n/a
32	chr3:46925181-46925231	BE2_C	brain:	n/a
33	chr3:46925181-46925231	SK-N-SH_RA	brain:	n/a
34	chr3:46925181-46925231	AoSMC	blood vessel:	n/a
35	chr3:46925181-46925231	Caco-2	colon:	n/a
36	chr3:46925181-46925231	ECC-1	luminal epithelium:	n/a
37	chr3:46925181-46925231	LNCaP	prostate:	n/a
38	chr3:46925181-46925231	HEEpiC	esophagus:	n/a
39	chr3:46925181-46925231	AG09309	skin:	n/a
40	chr3:46925181-46925231	Hepatocyte	liver:	n/a
41	chr3:46925181-46925231	AG04449	skin:	fetal
42	chr3:46925181-46925231	A549	lung:	n/a
43	chr3:46925181-46925231	AG09319	gingival:	n/a
44	chr3:46925181-46925231	HRPEpiC	eye:	n/a
45	chr3:46925181-46925231	HRE	kidney:	n/a
46	chr3:46925181-46925231	NB4	blood:	n/a
47	chr3:46925181-46925231	HCT-116	colon:	n/a
48	chr3:46925181-46925231	PANC-1	pancreas:	n/a
49	chr3:46925181-46925231	HAEpiC	amniotic membrane:	n/a
50	chr3:46925181-46925231	MCF10A-Er-Src	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46733801..46735413-chr3:46924430..46926212,2	MCF-7	breast:
2	chr3:46917376..46920621-chr3:46922888..46926605,5	K562	blood:
3	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
4	chr3:46923291..46931131-chr3:46931662..46935716,9	K562	blood:
5	chr3:46924894..46926955-chr3:46938452..46941314,2	K562	blood:

No data

Variant related genes	Relation type
MYL3	TF binding region
MYL3	CpG island
ENSG00000160801	Chromatin interaction
ENSG00000178038	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46922400-46925400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
2	chr3:46922600-46925400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:46922600-46925400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:46922600-46925400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:46922600-46925600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr3:46922600-46926000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:46922800-46925400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr3:46922800-46925600	Active TSS	Brain Cingulate Gyrus	brain
9	chr3:46923000-46925400	Active TSS	Aorta	Aorta
10	chr3:46923000-46925600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
11	chr3:46923200-46925400	Active TSS	Lung	lung
12	chr3:46923200-46925400	Active TSS	HSMM	muscle
13	chr3:46923200-46925600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr3:46923200-46926600	Active TSS	Right Atrium	heart
15	chr3:46923800-46925800	Active TSS	Brain Substantia Nigra	brain
16	chr3:46924400-46925400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:46924400-46925400	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr3:46924400-46925800	Active TSS	Brain Angular Gyrus	brain
19	chr3:46924400-46925800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr3:46924400-46926600	Active TSS	Left Ventricle	heart
21	chr3:46924600-46925400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr3:46924600-46925400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr3:46924600-46925400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr3:46924600-46925600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr3:46924800-46925400	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr3:46924800-46925400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:46924800-46925800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:46925000-46925400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr3:46925000-46925400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr3:46925000-46925400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr3:46925000-46925400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:46925000-46925400	Flanking Active TSS	Ovary	ovary
43	chr3:46925000-46925400	Flanking Active TSS	Right Ventricle	heart
44	chr3:46925000-46925600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr3:46925000-46925600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr3:46925000-46925600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr3:46925000-46925600	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr3:46925000-46925600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr3:46925000-46925600	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr3:46925000-46925800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links