Variant report

Variant	rs2923947
Chromosome Location	chr11:4011144-4011145
allele	A/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	ZNF384	chr11:4011056-4011440	GM12878	blood:	n/a	n/a
2	EBF1	chr11:4011099-4011395	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:4010872-4011155	IMR90	lung:	n/a	n/a
4	EP300	chr11:4010858-4011466	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:4011135-4011351	GM12878	blood:	n/a	n/a
6	MAX	chr11:4011095-4011230	GM12878	blood:	n/a	n/a
7	RUNX3	chr11:4011107-4011453	GM12878	blood:	n/a	n/a
8	EP300	chr11:4011125-4011322	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224555	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10742229	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030814	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602757	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442725	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1465952	0.85[EUR][1000 genomes]
rs2289570	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2898950	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920137	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920140	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920141	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920142	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2923951	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923952	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923954	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959060	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959061	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959064	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959069	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959071	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959072	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959073	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35695744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794051	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3794052	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910595	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910881	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7924858	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7926908	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7927493	0.93[EUR][1000 genomes]
rs7930739	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938946	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940635	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7945918	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs894455	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs894457	0.85[ASN][1000 genomes]
rs9735835	0.81[EUR][1000 genomes]
rs9988893	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv971974	chr11:4009259-4018790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:4001400-4011800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:4003200-4016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:4005400-4011800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:4006200-4013800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:4006400-4016600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:4007000-4011200	Weak transcription	K562	blood
10	chr11:4007000-4012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:4007200-4013800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:4007200-4014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:4007800-4015000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:4008600-4015400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:4009000-4013800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:4009400-4012400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:4009400-4012400	Weak transcription	Psoas Muscle	Psoas
18	chr11:4009400-4017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:4009400-4020200	Weak transcription	Pancreas	Pancrea
20	chr11:4009600-4017200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:4010000-4011200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr11:4010000-4012000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:4010000-4012800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:4010200-4011800	Enhancers	Dnd41	blood
25	chr11:4010400-4011200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:4010400-4011200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:4010400-4011200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:4010400-4011200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:4010400-4011200	Active TSS	Fetal Intestine Large	intestine
30	chr11:4010600-4011200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:4010600-4011400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:4010600-4011400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr11:4010600-4011600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:4010800-4011200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:4010800-4011200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:4010800-4011400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:4010800-4011400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:4010800-4011400	Enhancers	Fetal Lung	lung
39	chr11:4010800-4011400	Weak transcription	Spleen	Spleen
40	chr11:4010800-4011800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:4010800-4012000	Enhancers	Primary T cells from cord blood	blood
42	chr11:4010800-4015800	Weak transcription	Left Ventricle	heart
43	chr11:4010800-4015800	Weak transcription	Thymus	Thymus
44	chr11:4010800-4017200	Weak transcription	Fetal Thymus	thymus
45	chr11:4011000-4011200	Enhancers	Fetal Brain Female	brain
46	chr11:4011000-4011800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:4011000-4011800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:4011000-4012400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:4011000-4012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:4011000-4012400	Weak transcription	Fetal Stomach	stomach

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