Variant report

Variant	rs7940292
Chromosome Location	chr11:4048226-4048227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:
2	chr11:4040603..4042840-chr11:4047485..4050461,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11821399	0.85[AMR][1000 genomes]
rs11823158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827750	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827795	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167562	0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412336	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	1.00[EUR][1000 genomes]
rs57365434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60110100	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.82[AFR][1000 genomes]
rs6578420	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578435	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	0.85[AMR][1000 genomes]
rs7123124	0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924332	0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942028	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.85[AMR][1000 genomes];1.00[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
2	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
5	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
6	chr11:4038800-4050000	Weak transcription	K562	blood
7	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:4040200-4049600	Weak transcription	A549	lung
9	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:4043400-4051200	Weak transcription	Liver	Liver
11	chr11:4043600-4049400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:4044200-4050200	Strong transcription	Fetal Thymus	thymus
13	chr11:4044400-4049200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:4044800-4049000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:4045000-4048400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:4045000-4048400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:4045000-4048400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4045000-4049000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:4045000-4049800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:4045000-4051200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:4045200-4048400	Strong transcription	Primary B cells from cord blood	blood
22	chr11:4045200-4048400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:4045200-4049200	Enhancers	Fetal Heart	heart
24	chr11:4045400-4049600	Enhancers	Fetal Stomach	stomach
25	chr11:4045600-4048400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:4045600-4048400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:4045600-4049200	Enhancers	Fetal Lung	lung
28	chr11:4045600-4049600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:4045800-4048400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:4045800-4053400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:4046000-4048400	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:4046000-4049600	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:4046000-4061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:4046200-4049000	Enhancers	Brain Germinal Matrix	brain
35	chr11:4046400-4051200	Weak transcription	HepG2	liver
36	chr11:4046600-4048600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:4047200-4048400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:4047200-4048400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr11:4047200-4050200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:4047400-4048400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:4047400-4048400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr11:4047400-4048400	Enhancers	Fetal Kidney	kidney
43	chr11:4047400-4048400	Enhancers	HUVEC	blood vessel
44	chr11:4047400-4049000	Weak transcription	Brain Anterior Caudate	brain
45	chr11:4047400-4049600	Enhancers	Colon Smooth Muscle	Colon
46	chr11:4047400-4050200	Strong transcription	Primary T cells from cord blood	blood
47	chr11:4047400-4050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:4047400-4053800	Weak transcription	Aorta	Aorta
49	chr11:4047400-4055400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:4047400-4061400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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