Variant report

Variant	rs7631598
Chromosome Location	chr3:46106614-46106615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46096990..46098944-chr3:46105207..46107426,2	K562	blood:
2	chr3:46104564..46106749-chr3:46109061..46111797,3	K562	blood:
3	chr3:46036104..46038471-chr3:46105793..46108265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11130085	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130086	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1118879	0.81[ASN][1000 genomes]
rs11917890	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11929281	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12485978	0.81[ASN][1000 genomes]
rs12495073	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12496322	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12629632	0.81[ASN][1000 genomes]
rs12637023	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13059919	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13060901	0.90[ASN][1000 genomes]
rs13065737	0.81[ASN][1000 genomes]
rs13073861	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13077099	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13077923	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13078053	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13098271	0.86[ASN][1000 genomes]
rs13434336	0.86[ASN][1000 genomes]
rs1392290	0.89[ASN][1000 genomes]
rs1491959	0.86[ASN][1000 genomes]
rs1500005	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1546077	0.82[ASN][1000 genomes]
rs1546078	0.82[ASN][1000 genomes]
rs1602579	0.81[ASN][1000 genomes]
rs1604069	0.86[ASN][1000 genomes]
rs17078577	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1909595	0.84[ASN][1000 genomes]
rs1909596	0.86[ASN][1000 genomes]
rs1976366	0.82[ASN][1000 genomes]
rs1976367	0.82[ASN][1000 genomes]
rs2036292	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2131091	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2201984	0.86[ASN][1000 genomes]
rs2220678	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2373153	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373154	0.81[ASN][1000 genomes]
rs28808964	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34067839	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34381514	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34906043	0.86[ASN][1000 genomes]
rs35359253	0.81[ASN][1000 genomes]
rs35435608	0.86[ASN][1000 genomes]
rs35462017	0.81[ASN][1000 genomes]
rs35567508	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35657218	0.86[ASN][1000 genomes]
rs35688834	0.80[ASN][1000 genomes]
rs36111470	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851347	0.89[ASN][1000 genomes]
rs4234452	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4314213	0.81[ASN][1000 genomes]
rs4333119	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682806	0.84[ASN][1000 genomes]
rs4682809	0.82[ASN][1000 genomes]
rs4682810	0.82[ASN][1000 genomes]
rs4683168	0.86[ASN][1000 genomes]
rs4683175	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683178	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56307311	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59521415	0.81[ASN][1000 genomes]
rs60539039	0.89[ASN][1000 genomes]
rs61079448	0.81[ASN][1000 genomes]
rs6441944	0.81[ASN][1000 genomes]
rs6764042	0.90[ASN][1000 genomes]
rs6784214	0.82[ASN][1000 genomes]
rs6794103	0.91[ASN][1000 genomes]
rs6794475	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6795629	0.82[ASN][1000 genomes]
rs6800484	0.85[ASN][1000 genomes]
rs6805094	0.90[ASN][1000 genomes]
rs6809381	0.81[ASN][1000 genomes]
rs7609756	0.80[ASN][1000 genomes]
rs7610518	0.81[ASN][1000 genomes]
rs7616464	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7623190	0.86[ASN][1000 genomes]
rs7623460	0.90[ASN][1000 genomes]
rs7642701	0.86[ASN][1000 genomes]
rs9311386	0.86[ASN][1000 genomes]
rs9311387	0.86[ASN][1000 genomes]
rs9637425	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9824886	0.90[ASN][1000 genomes]
rs9849015	0.86[ASN][1000 genomes]
rs9870445	0.86[ASN][1000 genomes]
rs9876587	0.86[ASN][1000 genomes]
rs9990063	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:46103600-46107000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:46103800-46106800	Enhancers	GM12878-XiMat	blood
5	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:46104200-46108400	Enhancers	Fetal Thymus	thymus
9	chr3:46104200-46110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:46104200-46110200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:46104800-46107000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:46104800-46109200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:46105000-46107000	Weak transcription	Psoas Muscle	Psoas
17	chr3:46105000-46108600	Weak transcription	Spleen	Spleen
18	chr3:46105000-46109800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:46105200-46106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:46105200-46107000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:46105200-46107000	Weak transcription	Left Ventricle	heart
22	chr3:46105200-46108600	Weak transcription	Aorta	Aorta
23	chr3:46105200-46111000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:46105400-46111000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:46105600-46107200	Weak transcription	Adipose Nuclei	Adipose
26	chr3:46105600-46107600	Enhancers	Fetal Heart	heart
27	chr3:46105800-46107200	Enhancers	Dnd41	blood
28	chr3:46105800-46107600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:46106000-46107000	Enhancers	Esophagus	oesophagus
30	chr3:46106000-46107600	Enhancers	Right Atrium	heart
31	chr3:46106200-46107600	Bivalent Enhancer	Thymus	Thymus
32	chr3:46106400-46106800	Enhancers	Primary B cells from cord blood	blood
33	chr3:46106400-46106800	Weak transcription	Lung	lung
34	chr3:46106400-46106800	Weak transcription	Right Ventricle	heart
35	chr3:46106400-46111200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr3:46106600-46107200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:46106600-46107400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr3:46106600-46107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:46106600-46108200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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