Variant report

Variant	rs967754
Chromosome Location	chr11:46436789-46436790
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	chr11:46431419..46434415-chr11:46435571..46438386,5	K562	blood:
2	chr11:46431554..46433236-chr11:46435981..46438386,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10734546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038924	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12099188	0.80[AFR][1000 genomes]
rs1466634	1.00[YRI][hapmap]
rs1489189	1.00[YRI][hapmap]
rs1489190	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489193	1.00[YRI][hapmap]
rs1812657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873129	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087360	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864071	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864836	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs34217002	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34444424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35935319	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4433539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550197	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs57923752	0.80[AFR][1000 genomes]
rs58314136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60026983	0.80[AFR][1000 genomes]
rs60147143	0.80[AFR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61693609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449906	0.80[AFR][1000 genomes]
rs73449908	0.80[AFR][1000 genomes]
rs73449917	0.80[AFR][1000 genomes]
rs73449920	0.80[AFR][1000 genomes]
rs73449937	0.80[AFR][1000 genomes]
rs73449939	0.80[AFR][1000 genomes]
rs73449943	0.80[AFR][1000 genomes]
rs73449951	0.80[AFR][1000 genomes]
rs73449956	0.80[AFR][1000 genomes]
rs73449974	0.80[AFR][1000 genomes]
rs73449985	0.80[AFR][1000 genomes]
rs73450002	0.80[AFR][1000 genomes]
rs73451811	0.80[AFR][1000 genomes]
rs73451819	0.80[AFR][1000 genomes]
rs73451822	0.80[AFR][1000 genomes]
rs73451825	0.80[AFR][1000 genomes]
rs73451848	0.80[AFR][1000 genomes]
rs73451858	0.80[AFR][1000 genomes]
rs73451860	0.80[AFR][1000 genomes]
rs73451863	0.80[AFR][1000 genomes]
rs73451880	0.80[AFR][1000 genomes]
rs73451885	0.80[AFR][1000 genomes]
rs73451898	0.80[AFR][1000 genomes]
rs73464080	1.00[AMR][1000 genomes]
rs73466031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467919	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467936	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467944	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467947	0.80[AFR][1000 genomes]
rs73467950	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467963	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467964	0.80[AFR][1000 genomes]
rs73467966	0.80[AFR][1000 genomes]
rs7924437	0.91[AFR][1000 genomes]
rs7924695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928869	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942788	1.00[YRI][hapmap]

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	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46414800-46436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
3	chr11:46417200-46439600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
5	chr11:46421000-46444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:46421000-46447000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46423400-46439600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:46423400-46444600	Strong transcription	Stomach Smooth Muscle	stomach
9	chr11:46425400-46439600	Strong transcription	Liver	Liver
10	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
11	chr11:46427000-46442800	Weak transcription	Right Atrium	heart
12	chr11:46427000-46444600	Strong transcription	Lung	lung
13	chr11:46427800-46437400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:46428000-46443800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:46428800-46440600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:46429000-46439600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:46429000-46439600	Strong transcription	GM12878-XiMat	blood
18	chr11:46429200-46446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:46430000-46436800	Weak transcription	NH-A	brain
20	chr11:46430000-46437200	Weak transcription	Fetal Kidney	kidney
21	chr11:46430200-46450600	Weak transcription	HUVEC	blood vessel
22	chr11:46430200-46456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:46430600-46438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:46430600-46451600	Weak transcription	NHDF-Ad	bronchial
25	chr11:46430600-46455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:46432000-46436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:46432000-46438200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:46432400-46436800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:46433000-46439800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:46433000-46443200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:46433200-46449200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:46433400-46437200	Strong transcription	HMEC	breast
33	chr11:46433600-46439200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:46433600-46439400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:46433600-46439600	Strong transcription	Colonic Mucosa	Colon
36	chr11:46433600-46440800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:46433600-46444200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:46433800-46438600	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:46433800-46439800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:46434000-46439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:46434000-46439600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:46434200-46437800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:46434200-46438400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:46434200-46438400	Genic enhancers	Fetal Thymus	thymus
46	chr11:46434200-46438600	Strong transcription	Brain Anterior Caudate	brain
47	chr11:46434200-46439200	Enhancers	Fetal Heart	heart
48	chr11:46434200-46439600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:46434200-46439600	Strong transcription	Placenta	Placenta
50	chr11:46434200-46440000	Strong transcription	Rectal Mucosa Donor 29	rectum

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