Variant report

Variant	rs2167562
Chromosome Location	chr11:3970371-3970372
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	chr11:3966514..3968687-chr11:3969725..3973118,3	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10500591	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11821399	1.00[AMR][1000 genomes]
rs11823158	0.85[AMR][1000 genomes]
rs11827535	0.85[AMR][1000 genomes]
rs11827750	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827795	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929611	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2167563	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2412336	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57282641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292382	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57365434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58151848	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58461583	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59108256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973839	0.85[AMR][1000 genomes]
rs60110100	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60462758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61225070	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61355819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589687	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6578420	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578421	1.00[EUR][1000 genomes]
rs6578423	0.89[YRI][hapmap]
rs6578435	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109227	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117657	0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122796	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123124	0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128522	0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72555753	1.00[EUR][1000 genomes]
rs7924332	1.00[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7931280	0.90[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938706	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938862	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939086	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940292	0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7941743	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs7942028	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942271	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943217	0.89[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949898	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894456	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:3961600-3975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:3962000-3971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:3962000-3973400	Weak transcription	Ovary	ovary
6	chr11:3963000-3973200	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:3964400-3971600	Weak transcription	A549	lung
8	chr11:3964400-3972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:3964400-3972400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:3965800-3970400	Enhancers	Colon Smooth Muscle	Colon
11	chr11:3965800-3972000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:3966000-3972200	Weak transcription	Pancreas	Pancrea
13	chr11:3967000-3972600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:3967200-3970800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:3967400-3971200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:3967400-3971400	Enhancers	Fetal Heart	heart
17	chr11:3967800-3971200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:3968000-3972200	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:3968200-3971000	Active TSS	Thymus	Thymus
20	chr11:3968200-3972000	Weak transcription	Stomach Mucosa	stomach
21	chr11:3968200-3974600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:3968600-3970400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:3968600-3971200	Flanking Active TSS	Dnd41	blood
25	chr11:3968600-3971800	Weak transcription	Osteobl	bone
26	chr11:3968600-3972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:3968600-3972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:3968600-3972200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:3968800-3972000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:3968800-3974600	Weak transcription	HMEC	breast
31	chr11:3969000-3970600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:3969000-3970600	Weak transcription	Small Intestine	intestine
33	chr11:3969000-3971400	Weak transcription	Spleen	Spleen
34	chr11:3969000-3971600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:3969000-3971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:3969000-3971800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:3969000-3971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:3969000-3972000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:3969000-3972200	Weak transcription	Right Atrium	heart
40	chr11:3969000-3972400	Weak transcription	Placenta	Placenta
41	chr11:3969000-3973200	Enhancers	Primary B cells from cord blood	blood
42	chr11:3969000-3974000	Weak transcription	Gastric	stomach
43	chr11:3969000-3974200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:3969000-3974600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:3969000-3975400	Weak transcription	NHDF-Ad	bronchial
46	chr11:3969000-3980400	Weak transcription	NHLF	lung
47	chr11:3969200-3971200	Weak transcription	HepG2	liver
48	chr11:3969200-3971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:3969200-3972000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:3969200-3972000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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