Variant report

Variant	rs4379839
Chromosome Location	chr11:4038256-4038257
allele	C/G
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	KAP1	chr11:4037770-4038314	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
RPS29P20	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10734400	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10742194	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10742207	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10767775	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835500	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11030584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2860454	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2923946	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2923958	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2923959	0.87[AFR][1000 genomes]
rs2959058	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2959059	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2959060	0.80[AFR][1000 genomes]
rs2959061	0.80[AFR][1000 genomes]
rs2959080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910588	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6578430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs727152	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928763	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
5	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
6	chr11:4021000-4044400	Weak transcription	Dnd41	blood
7	chr11:4028800-4043400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:4029000-4041400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:4036600-4040800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:4037000-4039200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:4037200-4045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:4037400-4040000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:4037600-4038400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:4037600-4038400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:4037600-4038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:4037600-4038400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4037600-4038400	Enhancers	Lung	lung
19	chr11:4037600-4038400	Enhancers	Pancreas	Pancrea
20	chr11:4037600-4038400	Enhancers	Psoas Muscle	Psoas
21	chr11:4037600-4038400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:4037600-4038800	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:4037600-4039000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:4037600-4039600	Enhancers	Placenta	Placenta
25	chr11:4037800-4038400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:4037800-4038600	Enhancers	Right Ventricle	heart
27	chr11:4037800-4038800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:4037800-4038800	Enhancers	K562	blood
29	chr11:4037800-4039200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:4037800-4040200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:4038000-4038400	Enhancers	Esophagus	oesophagus
32	chr11:4038000-4038800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:4038000-4039200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr11:4038000-4039200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:4038000-4044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
37	chr11:4038200-4038400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:4038200-4039000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:4038200-4039800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:4038200-4040000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:4038200-4044000	Weak transcription	GM12878-XiMat	blood
42	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart

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