Variant report

Variant	rs10742207
Chromosome Location	chr11:4004482-4004483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4003558..4006551-chr11:4007203..4009019,2	K562	blood:
2	chr11:3994046..3996108-chr11:4004247..4006936,2	K562	blood:

Variant related genes	Relation type
ENSG00000255141	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10734400	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742194	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767775	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835500	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11030584	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2860454	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2923946	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923959	0.83[AFR][1000 genomes]
rs2959058	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959059	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959080	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379839	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910588	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6578430	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs727152	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7928763	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
2	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
3	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
5	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:3986000-4008000	Weak transcription	HepG2	liver
7	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:3988200-4006200	Weak transcription	Pancreas	Pancrea
9	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
10	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
11	chr11:3989800-4006000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:3989800-4006200	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:3989800-4006600	Weak transcription	Liver	Liver
14	chr11:3990400-4006000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:3991200-4006200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:3995400-4005800	Weak transcription	Fetal Stomach	stomach
18	chr11:3997000-4004800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:3997200-4004800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:3998600-4008800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:4000600-4010800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:4001000-4006000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:4001400-4006200	Weak transcription	Small Intestine	intestine
24	chr11:4001400-4011800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:4001800-4006000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:4002000-4005000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:4002000-4005600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:4002000-4006000	Weak transcription	Fetal Heart	heart
29	chr11:4002200-4008600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:4002200-4008600	Weak transcription	Gastric	stomach
31	chr11:4002400-4004800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:4002400-4005600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:4002600-4007200	Enhancers	Thymus	Thymus
34	chr11:4002600-4009600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:4002800-4005000	Enhancers	Dnd41	blood
36	chr11:4002800-4005400	Enhancers	Fetal Thymus	thymus
37	chr11:4002800-4006000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:4002800-4006000	Weak transcription	NHDF-Ad	bronchial
39	chr11:4003000-4005600	Weak transcription	K562	blood
40	chr11:4003000-4007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:4003000-4010600	Weak transcription	Esophagus	oesophagus
42	chr11:4003200-4016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:4003400-4004600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:4003400-4006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:4003600-4004800	Weak transcription	Ovary	ovary
46	chr11:4003600-4007600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:4003800-4006000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr11:4003800-4007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:4003800-4007200	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:4003800-4007200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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