Variant report

Variant	rs3134291
Chromosome Location	chr8:104425609-104425610
allele	C/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	chr8:104425420-104427990	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:104423258-104429002	IMR90	lung:	n/a	n/a
3	MXI1	chr8:104425196-104428858	IMR90	lung:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
4	POLR2A	chr8:104425272-104428004	K562	blood:	n/a	n/a
5	POLR2A	chr8:104425305-104428560	PFSK-1	brain:	n/a	n/a
6	E2F4	chr8:104425580-104425728	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:104424456-104425709	HepG2	liver:	n/a	n/a
8	WRNIP1	chr8:104425417-104425634	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:104425382-104428398	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr8:104425295-104429257	SK-N-SH	brain:	n/a	chr8:104426636-104426645 chr8:104426634-104426643

No.	Distal block	Cell Line	Cell type
1	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
2	chr8:104292150..104293871-chr8:104425235..104426887,2	MCF-7	breast:
3	chr8:104401208..104405161-chr8:104423386..104426686,3	K562	blood:
4	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:

Variant related genes	Relation type
DCAF13	TF binding region
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000176406	Chromatin interaction
ENSG00000253477	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1061195	0.90[ASN][1000 genomes]
rs1095723	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1095725	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11780843	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12677876	0.91[ASN][1000 genomes]
rs1370005	0.93[ASN][1000 genomes]
rs1370006	0.94[ASN][1000 genomes]
rs1436595	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1436597	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436598	0.88[ASN][1000 genomes]
rs1436599	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16870396	0.93[ASN][1000 genomes]
rs1865853	0.89[ASN][1000 genomes]
rs1865854	0.89[ASN][1000 genomes]
rs2082971	0.90[ASN][1000 genomes]
rs2118057	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2241777	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241778	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304501	0.93[ASN][1000 genomes]
rs2388720	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2437762	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2575691	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2575693	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2575694	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2575697	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2575699	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2687348	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2687359	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2687363	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2687364	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2917551	0.82[ASN][1000 genomes]
rs2948446	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3098212	0.88[ASN][1000 genomes]
rs3098214	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098215	0.93[ASN][1000 genomes]
rs3098217	0.92[ASN][1000 genomes]
rs3098218	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098219	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098220	0.93[ASN][1000 genomes]
rs3098221	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098222	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098223	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098224	0.93[ASN][1000 genomes]
rs3098225	0.93[ASN][1000 genomes]
rs3098227	0.94[ASN][1000 genomes]
rs3098233	0.85[ASN][1000 genomes]
rs3098236	0.94[ASN][1000 genomes]
rs3098237	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098240	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098241	0.95[ASN][1000 genomes]
rs3098242	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098243	1.00[CEU][hapmap]
rs3098244	0.95[ASN][1000 genomes]
rs3098245	0.95[ASN][1000 genomes]
rs3098248	0.85[ASN][1000 genomes]
rs3098249	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098250	0.90[ASN][1000 genomes]
rs3098255	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098256	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098257	0.88[ASN][1000 genomes]
rs3098258	0.88[ASN][1000 genomes]
rs3098259	0.90[ASN][1000 genomes]
rs3098260	0.89[ASN][1000 genomes]
rs3133804	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133807	0.88[ASN][1000 genomes]
rs3133809	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133811	0.91[ASN][1000 genomes]
rs3133813	0.94[ASN][1000 genomes]
rs3133814	0.95[ASN][1000 genomes]
rs3133815	0.95[ASN][1000 genomes]
rs3133816	0.95[ASN][1000 genomes]
rs3133817	0.95[ASN][1000 genomes]
rs3133819	0.91[ASN][1000 genomes]
rs3134250	0.93[ASN][1000 genomes]
rs3134251	0.89[ASN][1000 genomes]
rs3134253	0.93[ASN][1000 genomes]
rs3134254	0.93[ASN][1000 genomes]
rs3134255	0.93[ASN][1000 genomes]
rs3134258	0.94[ASN][1000 genomes]
rs3134261	0.94[ASN][1000 genomes]
rs3134262	0.95[ASN][1000 genomes]
rs3134264	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134265	0.94[ASN][1000 genomes]
rs3134266	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134267	0.93[ASN][1000 genomes]
rs3134270	0.93[ASN][1000 genomes]
rs3134271	0.93[ASN][1000 genomes]
rs3134272	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134273	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134275	0.91[ASN][1000 genomes]
rs3134277	0.90[ASN][1000 genomes]
rs3134278	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134279	0.95[ASN][1000 genomes]
rs3134280	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134281	0.89[ASN][1000 genomes]
rs3134282	0.89[ASN][1000 genomes]
rs3134285	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134286	0.95[ASN][1000 genomes]
rs3134287	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134289	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134290	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134292	0.95[ASN][1000 genomes]
rs3134293	0.95[ASN][1000 genomes]
rs3134295	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134296	0.95[ASN][1000 genomes]
rs3134297	0.95[ASN][1000 genomes]
rs4734699	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734700	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7465574	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs750606	0.95[ASN][1000 genomes]
rs7816297	0.93[ASN][1000 genomes]
rs827595	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs844138	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs893044	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975440	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
2	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
3	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
4	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:104405800-104426600	Weak transcription	Gastric	stomach
6	chr8:104413800-104425800	Weak transcription	Fetal Kidney	kidney
7	chr8:104416000-104425800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:104417000-104426400	Weak transcription	Placenta	Placenta
9	chr8:104417400-104426400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:104418800-104426400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:104419000-104426200	Weak transcription	Fetal Stomach	stomach
12	chr8:104419000-104426400	Weak transcription	Aorta	Aorta
13	chr8:104419000-104426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:104419600-104426400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:104420400-104426200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:104420800-104426000	Enhancers	Liver	Liver
17	chr8:104421000-104426400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:104422800-104426600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:104422800-104426600	Weak transcription	Lung	lung
20	chr8:104422800-104426600	Weak transcription	Spleen	Spleen
21	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
22	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:104423600-104425800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:104423600-104426200	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:104423600-104426400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:104423600-104426400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:104423600-104426400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:104423800-104425800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:104423800-104426000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:104423800-104426200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:104423800-104426200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:104424000-104426000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:104424000-104426200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:104424000-104426200	Flanking Active TSS	Dnd41	blood
35	chr8:104424000-104426400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:104424000-104426600	Weak transcription	Left Ventricle	heart
37	chr8:104424400-104425800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:104424400-104426200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:104424400-104426400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:104424400-104426400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:104424400-104426400	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:104424600-104426000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:104424600-104426000	Enhancers	Colon Smooth Muscle	Colon
44	chr8:104424600-104426000	Transcr. at gene 5' and 3'	NH-A	brain
45	chr8:104424600-104426200	Enhancers	Adipose Nuclei	Adipose
46	chr8:104424600-104426200	Flanking Active TSS	Osteobl	bone
47	chr8:104424600-104426400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:104424600-104426400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:104424600-104426800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:104424600-104428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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