Variant report

Variant	rs74070590
Chromosome Location	chr1:45197896-45197897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:45196017-45198149	HCT-116	colon:	n/a	n/a
2	POLR2A	chr1:45197806-45198214	HepG2	liver:	n/a	n/a
3	ZNF384	chr1:45197760-45198026	K562	blood:	n/a	n/a
4	POLR2A	chr1:45197721-45198295	HepG2	liver:	n/a	n/a
5	HEY1	chr1:45197753-45198255	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:45197727-45198175	HCT-116	colon:	n/a	n/a
7	HA-E2F1	chr1:45197785-45198193	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:45197805-45198021	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:45194515..45198714-chr1:45239955..45244261,13	MCF-7	breast:
2	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
3	chr1:45195497..45197976-chr1:46711781..46715025,4	K562	blood:
4	chr1:45195509..45198075-chr1:45804039..45807111,4	K562	blood:
5	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
6	chr1:45193444..45198675-chr1:45475617..45480324,16	K562	blood:
7	chr1:45194988..45198272-chr1:45451491..45453905,3	K562	blood:
8	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
9	chr1:45195514..45197967-chr1:78468300..78470449,2	K562	blood:
10	chr1:45138378..45140523-chr1:45195153..45198091,3	MCF-7	breast:
11	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
12	chr1:45195127..45198642-chr1:45986086..45989017,4	K562	blood:
13	chr1:45193557..45198509-chr1:45202622..45207012,16	MCF-7	breast:
14	chr1:45196722..45198630-chr1:45239788..45242584,2	MCF-7	breast:
15	chr1:45140169..45143277-chr1:45195258..45198293,3	MCF-7	breast:
16	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
17	chr1:45197142..45199474-chr1:45986906..45989870,2	K562	blood:
18	chr1:45195288..45198728-chr1:46046767..46051124,6	K562	blood:
19	chr1:45195403..45198201-chr1:46153522..46155662,2	K562	blood:
20	chr1:45195042..45198446-chr1:46014587..46018125,4	K562	blood:
21	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
22	chr1:45195621..45198121-chr12:53300687..53302530,2	MCF-7	breast:
23	chr1:45194719..45198675-chr1:45474706..45481379,10	K562	blood:
24	chr1:44443594..44445689-chr1:45195504..45198097,2	MCF-7	breast:
25	chr1:45196333..45198240-chr5:134181309..134183624,2	K562	blood:
26	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
27	chr1:45196137..45198081-chr1:46014587..46016947,2	K562	blood:
28	chr1:45195124..45198075-chr1:45803994..45805596,3	K562	blood:
29	chr1:45193680..45198999-chr1:45768008..45771912,9	K562	blood:

No data

Variant related genes	Relation type
RNU5D-1	TF binding region
ENSG00000181904	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000264294	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9988437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988579	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9988624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv998871	chr1:45196587-45251179	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	171 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45192800-45198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:45192800-45198800	Weak transcription	HMEC	breast
4	chr1:45193400-45200400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:45196200-45199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:45196400-45200000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:45196400-45204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:45197000-45198000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:45197000-45198000	Enhancers	Dnd41	blood
10	chr1:45197000-45198000	Enhancers	Osteobl	bone
11	chr1:45197000-45198200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:45197000-45198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:45197000-45198800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:45197000-45198800	Weak transcription	Fetal Stomach	stomach
15	chr1:45197000-45198800	Weak transcription	Left Ventricle	heart
16	chr1:45197000-45199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:45197000-45199000	Weak transcription	HSMMtube	muscle
18	chr1:45197000-45199400	Enhancers	Fetal Thymus	thymus
19	chr1:45197000-45199600	Enhancers	NHDF-Ad	bronchial
20	chr1:45197000-45203800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:45197000-45204200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:45197000-45204800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:45197000-45204800	Weak transcription	Right Atrium	heart
24	chr1:45197200-45198000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:45197200-45198000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:45197200-45198000	Enhancers	NHEK	skin
27	chr1:45197200-45198200	Enhancers	HSMM	muscle
28	chr1:45197200-45199200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:45197200-45204800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:45197200-45204800	Weak transcription	Fetal Lung	lung
31	chr1:45197400-45198000	Enhancers	Fetal Kidney	kidney
32	chr1:45197400-45198000	Flanking Active TSS	K562	blood
33	chr1:45197400-45198400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:45197400-45199400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:45197600-45198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:45197600-45198000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:45197600-45198000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:45197600-45198000	Enhancers	Fetal Intestine Large	intestine
39	chr1:45197600-45198000	Active TSS	Placenta	Placenta
40	chr1:45197600-45198000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:45197600-45198000	Enhancers	A549	lung
42	chr1:45197600-45198000	Flanking Active TSS	HepG2	liver
43	chr1:45197600-45198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:45197600-45199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:45197600-45204600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:45197600-45204600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:45197600-45204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:45197600-45204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:45197600-45204800	Weak transcription	Adipose Nuclei	Adipose
50	chr1:45197800-45198000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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