Variant report

Variant	rs57165613
Chromosome Location	chr15:75660112-75660113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:319)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:75659962-75660585	A549	lung:	n/a	chr15:75660324-75660334 chr15:75660324-75660336
2	POLR2A	chr15:75659890-75662207	U87	brain:	n/a	n/a
3	HEY1	chr15:75660111-75661543	HepG2	liver:	n/a	chr15:75660926-75660941 chr15:75660794-75660809 chr15:75660692-75660707
4	TAF1	chr15:75660065-75661315	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:75659764-75661741	K562	blood:	n/a	n/a
6	POLR2A	chr15:75660056-75661684	GM12892	blood:	n/a	n/a
7	TAF1	chr15:75660073-75661194	PFSK-1	brain:	n/a	n/a
8	ATF3	chr15:75660080-75661379	A549	lung:	n/a	n/a
9	RAD21	chr15:75659987-75660604	H1-hESC	embryonic stem cell:	n/a	chr15:75660324-75660334 chr15:75660324-75660336
10	SMC3	chr15:75659982-75661385	Hela-S3	cervix:	n/a	chr15:75660692-75660702
11	PML	chr15:75659996-75661257	K562	blood:	n/a	n/a
12	POLR2A	chr15:75660068-75661356	MCF-7	breast:	n/a	n/a
13	MYC	chr15:75660049-75661337	K562	blood:	n/a	chr15:75660385-75660395
14	RAD21	chr15:75660107-75660481	SK-N-SH_RA	brain:	n/a	chr15:75660324-75660334 chr15:75660324-75660336
15	RAD21	chr15:75659959-75660730	MCF-7	breast:	n/a	chr15:75660324-75660334 chr15:75660600-75660613 chr15:75660324-75660336
16	GABPA	chr15:75659977-75661645	MCF-7	breast:	n/a	chr15:75660386-75660395 chr15:75660702-75660711
17	POLR2A	chr15:75659624-75661617	GM12891	blood:	n/a	n/a
18	CTCF	chr15:75659969-75660556	GM12878	blood:	n/a	n/a
19	MAX	chr15:75659853-75661356	A549	lung:	n/a	chr15:75660385-75660395
20	USF1	chr15:75660047-75661249	A549	lung:	n/a	chr15:75660790-75660806
21	USF1	chr15:75659946-75660396	A549	lung:	n/a	n/a
22	CTCF	chr15:75660096-75660455	GM19240	blood:	n/a	n/a
23	POLR2A	chr15:75659896-75661510	U87	brain:	n/a	n/a
24	MXI1	chr15:75660062-75661423	GM12878	blood:	n/a	n/a
25	HDAC2	chr15:75659965-75661510	MCF-7	breast:	n/a	chr15:75661326-75661335
26	NR2F2	chr15:75660000-75661502	K562	blood:	n/a	n/a
27	POLR2A	chr15:75660094-75661638	SK-N-SH	brain:	n/a	n/a
28	MXI1	chr15:75659678-75661618	IMR90	lung:	n/a	n/a
29	MYC	chr15:75660031-75661425	HepG2	liver:	n/a	chr15:75660385-75660395
30	POLR2A	chr15:75659743-75662279	HepG2	liver:	n/a	n/a
31	ATF2	chr15:75659989-75660699	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:75659752-75662433	PANC-1	pancreas:	n/a	n/a
33	CHD2	chr15:75659963-75661161	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr15:75660104-75660474	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr15:75660017-75660477	HepG2	liver:	n/a	n/a
36	SMC3	chr15:75660058-75660440	HepG2	liver:	n/a	n/a
37	CTCF	chr15:75659114-75662073	A549	lung:	n/a	n/a
38	MAX	chr15:75659838-75661340	MCF-7	breast:	n/a	chr15:75660385-75660395
39	RAD21	chr15:75660046-75660528	ECC-1	luminal epithelium:	n/a	chr15:75660324-75660334 chr15:75660324-75660336
40	MAX	chr15:75660000-75660622	K562	blood:	n/a	chr15:75660385-75660395
41	YY1	chr15:75660098-75661224	K562	blood:	n/a	chr15:75660688-75660699
42	NFATC1	chr15:75660077-75660555	GM12878	blood:	n/a	n/a
43	RCOR1	chr15:75659991-75660441	K562	blood:	n/a	n/a
44	POLR2A	chr15:75659717-75661602	SK-N-MC	brain:	n/a	n/a
45	MAX	chr15:75659987-75660426	H1-hESC	embryonic stem cell:	n/a	chr15:75660385-75660395
46	FOXP2	chr15:75660083-75660545	SK-N-MC	brain:	n/a	n/a
47	MAX	chr15:75659889-75661574	MCF-7	breast:	n/a	chr15:75660385-75660395
48	RFX5	chr15:75660093-75661501	Hela-S3	cervix:	n/a	n/a
49	USF1	chr15:75659993-75660496	SK-N-SH_RA	brain:	n/a	n/a
50	MYC	chr15:75660112-75661170	MCF10A-Er-Src	breast:	n/a	chr15:75660385-75660395

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75630795..75633486-chr15:75658867..75660629,2	K562	blood:
2	chr15:75628015..75635137-chr15:75659177..75662618,8	MCF-7	breast:
3	chr15:75659279..75662047-chr15:75680944..75683813,3	K562	blood:
4	chr15:75658070..75664945-chr15:75741625..75749756,25	K562	blood:
5	chr15:75660086..75660899-chrX:71496569..71497174,2	Hela-S3	cervix:
6	chr1:84971286..84972368-chr15:75659986..75660965,3	Hela-S3	cervix:
7	chr15:75196889..75199250-chr15:75659017..75660744,2	K562	blood:
8	chr15:75659343..75661394-chr15:75938760..75940470,2	MCF-7	breast:
9	chr15:75658017..75661976-chr15:75870089..75873800,4	K562	blood:
10	chr15:75657489..75661684-chr15:75927450..75931877,5	K562	blood:
11	chr15:75626715..75630609-chr15:75659083..75662163,7	K562	blood:
12	chr15:75659414..75661741-chr15:76133150..76135870,3	K562	blood:
13	chr15:75659436..75662034-chr15:75939431..75941023,2	K562	blood:
14	chr15:75313706..75315834-chr15:75659150..75661879,2	K562	blood:
15	chr15:75659986..75660919-chr17:56736480..56737002,2	Hela-S3	cervix:
16	chr15:75659095..75662742-chr15:75916445..75919940,7	K562	blood:
17	chr15:75658930..75662576-chr15:75931399..75933599,5	MCF-7	breast:
18	chr15:75658228..75661982-chr15:75967267..75971746,4	K562	blood:
19	chr15:75657323..75661859-chr15:75928778..75934895,5	K562	blood:
20	chr15:75659495..75662351-chr15:75705859..75709575,3	MCF-7	breast:
21	chr15:75659062..75661181-chr15:75680479..75684245,3	MCF-7	breast:
22	chr15:75658624..75662706-chr15:75930016..75932707,8	MCF-7	breast:
23	chr15:75320338..75322055-chr15:75659198..75660857,2	K562	blood:
24	chr15:75657601..75665504-chr15:75739437..75749700,27	K562	blood:
25	chr15:75659887..75662361-chr15:75938355..75942043,7	MCF-7	breast:
26	chr15:74909806..74912416-chr15:75659270..75660874,2	MCF-7	breast:
27	chr15:75657484..75665083-chr15:75741604..75749517,41	MCF-7	breast:
28	chr15:75659308..75663624-chr15:75678074..75682949,5	MCF-7	breast:
29	chr15:75659648..75660390-chrX:153626628..153627266,2	Hela-S3	cervix:
30	chr15:75658017..75660479-chr15:75870000..75872676,3	K562	blood:
31	chr15:75656095..75662590-chr15:75739456..75750037,27	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260274	TF binding region
MAN2C1	TF binding region
ENSG00000174021	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000260206	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000198034	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000261714	Chromatin interaction
ENSG00000241890	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000260892	Chromatin interaction
ENSG00000260235	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000203392	Chromatin interaction
ENSG00000173548	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000169410	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58557360	1.00[AMR][1000 genomes]
rs60510690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60891224	1.00[AMR][1000 genomes]
rs7164910	1.00[EUR][1000 genomes]
rs8041436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
6	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
8	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
9	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
10	nsv904386	chr15:75655819-75673209	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75646000-75660200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:75658800-75660600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:75659400-75660400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:75659600-75660200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr15:75659600-75660200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr15:75659600-75660400	Flanking Active TSS	HUVEC	blood vessel
7	chr15:75659800-75660200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:75659800-75660200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:75659800-75660200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:75659800-75660200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:75659800-75660200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:75659800-75660200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:75659800-75660200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:75659800-75660200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr15:75659800-75660200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr15:75659800-75660200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:75659800-75660200	Flanking Active TSS	Fetal Brain Male	brain
18	chr15:75659800-75660200	Flanking Active TSS	Fetal Lung	lung
19	chr15:75659800-75660200	Flanking Active TSS	Right Ventricle	heart
20	chr15:75659800-75660200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
21	chr15:75659800-75660200	Genic enhancers	Spleen	Spleen
22	chr15:75659800-75660200	Flanking Active TSS	Hela-S3	cervix
23	chr15:75659800-75660200	Transcr. at gene 5' and 3'	HepG2	liver
24	chr15:75659800-75660200	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr15:75659800-75660200	Transcr. at gene 5' and 3'	K562	blood
26	chr15:75659800-75660200	Flanking Active TSS	NH-A	brain
27	chr15:75659800-75660200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr15:75659800-75660200	Transcr. at gene 5' and 3'	NHEK	skin
29	chr15:75659800-75660200	Transcr. at gene 5' and 3'	NHLF	lung
30	chr15:75659800-75660400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:75659800-75660400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr15:75659800-75660400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr15:75659800-75660400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr15:75659800-75660400	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr15:75659800-75660400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr15:75659800-75660400	Enhancers	Small Intestine	intestine
37	chr15:75659800-75660400	Enhancers	Stomach Mucosa	stomach
38	chr15:75659800-75660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:75659800-75660600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr15:75659800-75661200	Active TSS	Fetal Brain Female	brain
41	chr15:75659800-75661400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:75660000-75660200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:75660000-75660200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:75660000-75660200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:75660000-75660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:75660000-75660200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:75660000-75660200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:75660000-75660200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:75660000-75660200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
50	chr15:75660000-75660200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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