Variant report

Variant	rs57054585
Chromosome Location	chr14:105125907-105125908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105125741-105127385	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:105125715-105125928	U87	brain:	n/a	n/a
3	STAT5A	chr14:105125827-105126281	GM12878	blood:	n/a	chr14:105126113-105126125
4	POLR2A	chr14:105125904-105127371	GM12892	blood:	n/a	n/a
5	MTA3	chr14:105125786-105127384	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:105122960-105125958	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:105125341-105127703	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104601273..104602911-chr14:105124192..105126069,2	MCF-7	breast:
2	chr14:105120104..105122950-chr14:105124459..105126143,2	K562	blood:
3	chr14:105123598..105125940-chr14:105188430..105191252,2	MCF-7	breast:
4	chr14:105124725..105126951-chr14:105154633..105156683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258736	TF binding region
ENSG00000203485	Chromatin interaction
ENSG00000258736	Chromatin interaction
ENSG00000185100	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10873549	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431388	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12433394	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434207	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436070	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12436101	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12436635	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28435446	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371093	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4983377	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4983378	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4983518	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4983524	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4983525	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4983526	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55639933	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57515560	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59699979	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59804769	0.82[ASN][1000 genomes]
rs59950617	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72713869	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713877	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713881	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS 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	98 gene(s)	inside rSNPs	diseases
2	nsv1051647	chr14:104983302-105153720	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv542223	chr14:104983302-105153720	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	esv1816766	chr14:105007585-105126354	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv456445	chr14:105023512-105170003	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	nsv566047	chr14:105023512-105170003	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
9	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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	114 gene(s)	inside rSNPs	diseases
10	nsv902375	chr14:105045524-105139894	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
12	nsv902378	chr14:105086475-105200377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	nsv902379	chr14:105086475-105274093	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
14	nsv902380	chr14:105092479-105166002	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
15	nsv902381	chr14:105092479-105168414	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
16	nsv902382	chr14:105092479-105185666	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv902383	chr14:105092479-105200377	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
18	nsv902384	chr14:105092479-105208567	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
19	nsv902385	chr14:105092479-105215351	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
20	nsv902386	chr14:105092479-105233095	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
21	nsv902387	chr14:105092479-105274093	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
22	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
23	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
24	nsv902390	chr14:105100021-105185666	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
25	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats 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
26	nsv902391	chr14:105105769-105185666	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
27	nsv902392	chr14:105105769-105274093	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
28	nsv902393	chr14:105116232-105200377	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
29	nsv902394	chr14:105116232-105274093	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
30	nsv902395	chr14:105119897-105215351	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
31	nsv902396	chr14:105119897-105274093	Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105116800-105131600	Weak transcription	Right Atrium	heart
2	chr14:105121800-105126400	Enhancers	Primary B cells from cord blood	blood
3	chr14:105121800-105126400	Enhancers	Fetal Thymus	thymus
4	chr14:105121800-105127400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:105122200-105132800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:105122400-105126200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:105122800-105126000	Weak transcription	Left Ventricle	heart
8	chr14:105122800-105126000	Weak transcription	Spleen	Spleen
9	chr14:105122800-105126200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:105122800-105127200	Enhancers	Thymus	Thymus
11	chr14:105122800-105127600	Enhancers	Primary T cells from cord blood	blood
12	chr14:105122800-105127800	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:105123000-105127200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:105123400-105127400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:105123800-105126000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:105123800-105126400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:105123800-105131000	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:105124400-105128000	Flanking Active TSS	GM12878-XiMat	blood
19	chr14:105124600-105126000	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:105124600-105126000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:105124600-105127400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr14:105124800-105126000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:105124800-105127000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:105124800-105127200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:105125200-105126000	Weak transcription	Liver	Liver
26	chr14:105125200-105126600	Weak transcription	HepG2	liver
27	chr14:105125200-105127400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr14:105125400-105126000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:105125400-105126200	Enhancers	Right Ventricle	heart
30	chr14:105125400-105127400	Enhancers	Fetal Muscle Leg	muscle
31	chr14:105125600-105127200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:105125600-105127200	Enhancers	Placenta	Placenta
33	chr14:105125600-105127400	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr14:105125600-105131200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105125800-105126000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:105125800-105126200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:105125800-105126400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:105125800-105126400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:105125800-105126600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr14:105125800-105126600	Bivalent Enhancer	Fetal Stomach	stomach
41	chr14:105125800-105126800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:105125800-105127400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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