Variant report

Variant	rs1320675
Chromosome Location	chr11:66106701-66106702
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	FOS	chr11:66106559-66106901	MCF10A-Er-Src	breast:	n/a	chr11:66106726-66106736 chr11:66106726-66106736
2	POLR2A	chr11:66106530-66106919	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:66106669-66106849	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:66106205-66106819	GM12878	blood:	n/a	n/a
5	ZNF263	chr11:66106357-66106933	HEK293-T-REx	kidney:	n/a	chr11:66106602-66106623
6	MYC	chr11:66106532-66106931	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr11:66106526-66106927	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr11:66106592-66106879	MCF10A-Er-Src	breast:	n/a	chr11:66106680-66106688 chr11:66106603-66106615
9	FOS	chr11:66106526-66106933	MCF10A-Er-Src	breast:	n/a	chr11:66106726-66106736 chr11:66106726-66106736
10	POLR2A	chr11:66106389-66107246	K562	blood:	n/a	n/a
11	FOS	chr11:66106524-66106908	MCF10A-Er-Src	breast:	n/a	chr11:66106726-66106736 chr11:66106726-66106736
12	POLR2A	chr11:66106085-66106853	GM12892	blood:	n/a	n/a
13	STAT3	chr11:66106539-66106891	MCF10A-Er-Src	breast:	n/a	chr11:66106680-66106688 chr11:66106603-66106615
14	STAT3	chr11:66106592-66106873	MCF10A-Er-Src	breast:	n/a	chr11:66106680-66106688 chr11:66106603-66106615
15	STAT3	chr11:66106586-66106855	MCF10A-Er-Src	breast:	n/a	chr11:66106680-66106688 chr11:66106603-66106615
16	FOS	chr11:66106526-66106929	MCF10A-Er-Src	breast:	n/a	chr11:66106726-66106736 chr11:66106726-66106736

No.	Distal block	Cell Line	Cell type
1	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:
2	chr11:66105926..66107634-chr11:66113963..66115693,2	K562	blood:
3	chr11:66048984..66050928-chr11:66106089..66108288,2	MCF-7	breast:
4	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
5	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
6	chr11:66105229..66107921-chr11:66137845..66140826,3	MCF-7	breast:
7	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

Variant related genes	Relation type
RIN1	TF binding region
ENSG00000174871	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190626	1.00[TSI][hapmap];0.90[AMR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1344410	0.81[MKK][hapmap];1.00[TSI][hapmap]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2292123	1.00[TSI][hapmap]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3867130	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930359	0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs6421643	1.00[TSI][hapmap]
rs7104297	0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:66103600-66107600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:66104200-66107800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:66104200-66109000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:66104400-66106800	Genic enhancers	NHLF	lung
6	chr11:66104400-66107000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66104400-66107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:66104400-66107800	Enhancers	HMEC	breast
9	chr11:66104400-66110400	Strong transcription	Dnd41	blood
10	chr11:66104600-66106800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:66104600-66107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:66104600-66108200	Weak transcription	Stomach Mucosa	stomach
13	chr11:66104600-66109000	Weak transcription	Fetal Kidney	kidney
14	chr11:66104600-66109800	Strong transcription	Colonic Mucosa	Colon
15	chr11:66104600-66109800	Strong transcription	Lung	lung
16	chr11:66104600-66110000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66104600-66110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:66104600-66110400	Strong transcription	Fetal Intestine Large	intestine
19	chr11:66104600-66110400	Strong transcription	Right Ventricle	heart
20	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:66104800-66106800	Genic enhancers	GM12878-XiMat	blood
23	chr11:66104800-66107000	Genic enhancers	NHDF-Ad	bronchial
24	chr11:66104800-66107800	Weak transcription	HepG2	liver
25	chr11:66104800-66108800	Strong transcription	Gastric	stomach
26	chr11:66104800-66109600	Strong transcription	Brain Substantia Nigra	brain
27	chr11:66104800-66109600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr11:66104800-66109800	Strong transcription	Left Ventricle	heart
29	chr11:66104800-66110000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:66104800-66110000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:66104800-66110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:66104800-66110400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:66104800-66110800	Strong transcription	Adipose Nuclei	Adipose
34	chr11:66104800-66110800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr11:66104800-66110800	Weak transcription	Psoas Muscle	Psoas
36	chr11:66104800-66111000	Strong transcription	Primary T cells from cord blood	blood
37	chr11:66104800-66111200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:66104800-66111200	Strong transcription	Placenta	Placenta
39	chr11:66105000-66106800	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr11:66105000-66107200	Genic enhancers	Esophagus	oesophagus
41	chr11:66105000-66107400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:66105000-66109000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:66105000-66109600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:66105000-66109800	Strong transcription	Liver	Liver
45	chr11:66105000-66110000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:66105000-66110000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:66105000-66110400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:66105000-66110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:66105000-66111000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:66105000-66111000	Strong transcription	Monocytes-CD14+_RO01746	blood

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