Variant report

Variant	rs3812093
Chromosome Location	chr5:177676421-177676422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
2	chr5:177671586..177674457-chr5:177675153..177677148,2	MCF-7	breast:
3	chr5:177637291..177640571-chr5:177674983..177676979,3	K562	blood:
4	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
5	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
6	chr5:177665861..177669287-chr5:177672890..177677511,4	MCF-7	breast:
7	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11746830	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12521401	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2033202	0.97[EUR][1000 genomes]
rs2241580	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2241581	0.83[EUR][1000 genomes]
rs2973751	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973752	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973754	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812092	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4349733	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56039553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57478839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62388746	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6422346	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894388	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv883198	chr5:177659075-177690539	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv883199	chr5:177661902-177717640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv883200	chr5:177665342-177717640	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv883201	chr5:177665342-177746863	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	esv1849204	chr5:177666243-177676831	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv883202	chr5:177669413-177715291	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv3422938	chr5:177674596-177677094	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv600395	chr5:177675217-177707427	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	6 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	chr5:177669200-177677000	Weak transcription	Right Atrium	heart
2	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:177670000-177679200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:177673400-177677800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:177673400-177678000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:177673400-177678000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:177673800-177677400	Enhancers	Fetal Thymus	thymus
8	chr5:177674000-177681200	Weak transcription	Fetal Stomach	stomach
9	chr5:177674000-177682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:177674200-177677600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:177674400-177677600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:177674600-177677400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:177674600-177677800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:177674800-177677200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:177674800-177677600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:177675200-177677000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:177675400-177677200	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:177675400-177677600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:177675600-177677200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:177675600-177677600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:177675800-177677400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:177675800-177677400	Enhancers	Esophagus	oesophagus
24	chr5:177675800-177677600	Enhancers	Right Ventricle	heart
25	chr5:177676000-177676600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:177676000-177676600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:177676000-177676600	Enhancers	HMEC	breast
28	chr5:177676000-177676800	Weak transcription	Primary B cells from cord blood	blood
29	chr5:177676000-177677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:177676000-177677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:177676000-177677800	Enhancers	GM12878-XiMat	blood
32	chr5:177676200-177676600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:177676200-177676600	Bivalent Enhancer	NHEK	skin
34	chr5:177676200-177677200	Enhancers	Brain Hippocampus Middle	brain
35	chr5:177676200-177677400	Enhancers	Liver	Liver
36	chr5:177676400-177676800	Enhancers	Adipose Nuclei	Adipose
37	chr5:177676400-177676800	Enhancers	Osteobl	bone
38	chr5:177676400-177677200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:177676400-177677400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:177676400-177677400	Enhancers	Brain Substantia Nigra	brain
41	chr5:177676400-177677400	Enhancers	Left Ventricle	heart
42	chr5:177676400-177679400	Weak transcription	Spleen	Spleen

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