Variant report

Variant	rs72972549
Chromosome Location	chr11:93913616-93913617
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11828416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972543	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972556	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972562	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	12 gene(s)	inside rSNPs	diseases
3	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93885200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:93900400-93916000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:93901800-93914000	Weak transcription	Esophagus	oesophagus
7	chr11:93904400-93913800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:93904800-93920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:93905400-93919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:93905600-93914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:93905600-93914800	Weak transcription	Small Intestine	intestine
12	chr11:93907200-93919600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:93909000-93914400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:93909200-93917400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:93909400-93917400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:93909400-93918400	Weak transcription	Fetal Heart	heart
17	chr11:93909600-93917000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:93909800-93917200	Weak transcription	HUVEC	blood vessel
19	chr11:93910000-93914000	Strong transcription	Fetal Stomach	stomach
20	chr11:93910000-93914400	Strong transcription	Primary B cells from cord blood	blood
21	chr11:93910000-93916800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:93910400-93919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:93910600-93914200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:93910600-93915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:93910600-93915000	Strong transcription	Aorta	Aorta
26	chr11:93910600-93915600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:93910600-93916200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:93910600-93917200	Strong transcription	Dnd41	blood
29	chr11:93910600-93919200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:93910800-93914000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:93910800-93914800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:93910800-93914800	Strong transcription	Thymus	Thymus
33	chr11:93910800-93915000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:93910800-93915000	Strong transcription	Liver	Liver
35	chr11:93910800-93915200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:93910800-93915400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:93910800-93915400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:93910800-93915600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:93910800-93915600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:93910800-93915800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:93910800-93916000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:93910800-93916000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:93910800-93916000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:93910800-93916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:93910800-93917000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:93910800-93917000	Strong transcription	Left Ventricle	heart
47	chr11:93911000-93914400	Strong transcription	HepG2	liver
48	chr11:93911000-93914800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:93911000-93915400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr11:93911000-93915400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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