Variant report

Variant	rs3795716
Chromosome Location	chr1:45267698-45267699
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:45267497-45267841	K562	blood:	n/a	n/a
2	POLR2A	chr1:45267156-45268769	K562	blood:	n/a	n/a
3	POLR2A	chr1:45267482-45267961	K562	blood:	n/a	n/a
4	USF1	chr1:45267660-45268086	K562	blood:	n/a	n/a
5	GATA1	chr1:45267544-45267895	K562	blood:	n/a	chr1:45267816-45267824
6	POLR2A	chr1:45267666-45267892	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:45267436-45270498	HCT-116	colon:	n/a	n/a
8	POLR2A	chr1:45267535-45268109	IMR90	lung:	n/a	n/a
9	POU2F2	chr1:45267494-45267899	GM12891	blood:	n/a	chr1:45267660-45267673 chr1:45267781-45267793 chr1:45267660-45267673
10	POLR2A	chr1:45267604-45268146	K562	blood:	n/a	n/a
11	EGR1	chr1:45267501-45268274	K562	blood:	n/a	chr1:45268256-45268269 chr1:45268260-45268270 chr1:45268255-45268270
12	JUND	chr1:45267500-45267867	K562	blood:	n/a	n/a
13	HEY1	chr1:45267463-45268296	K562	blood:	n/a	n/a
14	POLR2A	chr1:45267438-45268565	GM12892	blood:	n/a	n/a
15	ZMIZ1	chr1:45267652-45267704	K562	blood:	n/a	n/a
16	TEAD4	chr1:45267461-45268021	K562	blood:	n/a	n/a
17	POLR2A	chr1:45267693-45267754	HepG2	liver:	n/a	n/a
18	GATA2	chr1:45267439-45267891	K562	blood:	n/a	chr1:45267816-45267824
19	TEAD4	chr1:45267392-45268270	K562	blood:	n/a	n/a
20	RCOR1	chr1:45267618-45268067	K562	blood:	n/a	n/a
21	TBL1XR1	chr1:45267662-45267857	GM12878	blood:	n/a	n/a
22	MAX	chr1:45267643-45267908	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:45267544-45268096	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:45267162-45267863	K562	blood:	n/a	n/a
25	MYC	chr1:45267626-45267849	K562	blood:	n/a	n/a
26	POLR2A	chr1:45267581-45268116	K562	blood:	n/a	n/a
27	POLR2A	chr1:45267541-45268321	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr1:45267440-45268264	GM12892	blood:	n/a	n/a
29	EP300	chr1:45267525-45267856	K562	blood:	n/a	chr1:45267810-45267817
30	CBX3	chr1:45267503-45268318	K562	blood:	n/a	n/a
31	TBL1XR1	chr1:45267601-45267959	K562	blood:	n/a	n/a
32	POLR2A	chr1:45267267-45270518	Hela-S3	cervix:	n/a	n/a
33	MAX	chr1:45267525-45268145	K562	blood:	n/a	n/a
34	NR2F2	chr1:45267513-45267917	K562	blood:	n/a	n/a
35	POLR2A	chr1:45267464-45268365	H1-neurons	neurons:	n/a	n/a
36	GATA2	chr1:45267500-45268069	K562	blood:	n/a	chr1:45267816-45267824
37	POLR2A	chr1:45267507-45267897	K562	blood:	n/a	n/a
38	POLR2A	chr1:45267670-45268578	Hela-S3	cervix:	n/a	n/a
39	STAT5A	chr1:45267441-45268184	K562	blood:	n/a	n/a
40	POLR2A	chr1:45267677-45268775	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:45267452-45268240	GM12892	blood:	n/a	n/a
42	EP300	chr1:45267693-45268153	GM12878	blood:	n/a	chr1:45267810-45267817
43	POLR2A	chr1:45267421-45268706	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr1:45267248-45270541	Hela-S3	cervix:	n/a	n/a
45	TAL1	chr1:45267490-45268041	K562	blood:	n/a	chr1:45267806-45267824
46	POLR2A	chr1:45267469-45268891	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:45267472-45268308	GM12891	blood:	n/a	n/a
48	POLR2A	chr1:45267571-45268215	GM12892	blood:	n/a	n/a
49	POLR2A	chr1:45267265-45267935	MCF10A-Er-Src	breast:	n/a	n/a
50	WRNIP1	chr1:45267664-45267916	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45205245..45207359-chr1:45265556..45268016,2	MCF-7	breast:
2	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
3	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
4	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
5	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
6	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
7	chr1:45240022..45242639-chr1:45267540..45269350,2	MCF-7	breast:
8	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
9	chr1:45210802..45212965-chr1:45265931..45268698,2	K562	blood:
10	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
11	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000142937	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12405329	1.00[ASN][1000 genomes]
rs12405483	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17880618	0.83[EUR][1000 genomes]
rs17884321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17885777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898333	0.93[ASN][1000 genomes]
rs56287310	0.90[ASN][1000 genomes]
rs56413110	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58640576	0.97[ASN][1000 genomes]
rs59630460	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60022108	0.93[ASN][1000 genomes]
rs74070589	0.90[ASN][1000 genomes]
rs74070593	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74073404	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7524294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv546147	chr1:45264874-45271097	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
15	esv3404071	chr1:45264890-45267738	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265200-45267800	Active TSS	Colon Smooth Muscle	Colon
2	chr1:45265200-45268200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:45265600-45267800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:45265600-45267800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:45265600-45267800	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr1:45265600-45267800	Active TSS	NHDF-Ad	bronchial
7	chr1:45265600-45268000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:45265600-45268200	Active TSS	Aorta	Aorta
9	chr1:45265600-45268200	Active TSS	Psoas Muscle	Psoas
10	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:45266200-45268400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:45266200-45270400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:45266400-45267800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr1:45266400-45268200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:45266400-45268400	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:45266400-45268600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:45266800-45267800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr1:45266800-45267800	Weak transcription	Fetal Heart	heart
20	chr1:45266800-45267800	Weak transcription	Stomach Mucosa	stomach
21	chr1:45266800-45268800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:45266800-45272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:45267000-45268400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:45267200-45267800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:45267200-45268200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:45267200-45268200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:45267200-45268200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:45267200-45268200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr1:45267200-45268400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:45267200-45268600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:45267200-45269800	Transcr. at gene 5' and 3'	NHEK	skin
32	chr1:45267200-45270200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:45267200-45270400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
34	chr1:45267400-45267800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:45267400-45267800	Active TSS	Fetal Brain Male	brain
36	chr1:45267400-45268000	Enhancers	Ovary	ovary
37	chr1:45267400-45268200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr1:45267400-45268400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:45267400-45268400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
40	chr1:45267400-45268400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:45267400-45269200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:45267400-45272800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
43	chr1:45267600-45267800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:45267600-45267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:45267600-45267800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:45267600-45267800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:45267600-45267800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:45267600-45267800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:45267600-45267800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:45267600-45267800	Flanking Active TSS	Adipose Nuclei	Adipose

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