Variant report

Variant	rs73512254
Chromosome Location	chr11:93882557-93882558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93860855..93863542-chr11:93879661..93882968,3	MCF-7	breast:
2	chr11:93880754..93883524-chr11:93885061..93886886,2	K562	blood:
3	chr11:93875120..93879114-chr11:93880737..93884211,6	K562	blood:
4	chr11:93877656..93879395-chr11:93882351..93886074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11822030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825553	0.92[AFR][1000 genomes]
rs11825559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276417	1.00[EUR][1000 genomes]
rs1518556	1.00[EUR][1000 genomes]
rs1518557	1.00[EUR][1000 genomes]
rs1518558	1.00[EUR][1000 genomes]
rs1518559	1.00[EUR][1000 genomes]
rs16919776	1.00[EUR][1000 genomes]
rs16919850	1.00[EUR][1000 genomes]
rs16919852	1.00[EUR][1000 genomes]
rs16919866	1.00[EUR][1000 genomes]
rs16919972	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460043	1.00[EUR][1000 genomes]
rs2511377	1.00[EUR][1000 genomes]
rs58814864	1.00[EUR][1000 genomes]
rs59912573	1.00[AMR][1000 genomes]
rs60464761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60818592	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102046	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7120920	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73512239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512249	1.00[AMR][1000 genomes]
rs73512252	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73512253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512258	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525500	1.00[AMR][1000 genomes]
rs73555258	1.00[AMR][1000 genomes]
rs73555259	1.00[AMR][1000 genomes]
rs73555263	1.00[AMR][1000 genomes]
rs983327	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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93868200-93886600	Weak transcription	Fetal Brain Female	brain
2	chr11:93868800-93883800	Weak transcription	Primary B cells from cord blood	blood
3	chr11:93873800-93887200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:93875400-93882600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:93875800-93882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:93875800-93882800	Weak transcription	Aorta	Aorta
7	chr11:93875800-93883800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:93875800-93884400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:93876200-93884400	Weak transcription	HSMMtube	muscle
10	chr11:93876200-93885200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:93876400-93884000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:93876400-93884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:93876600-93884200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:93876800-93883400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:93876800-93884200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:93877400-93882600	Weak transcription	Fetal Heart	heart
17	chr11:93877400-93883000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:93877800-93883200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:93877800-93884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:93878000-93883200	Weak transcription	Esophagus	oesophagus
21	chr11:93878400-93883000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:93878800-93883200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:93879200-93884200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:93879400-93883000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:93879400-93885000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:93879800-93883400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr11:93879800-93885000	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:93880000-93882600	Weak transcription	A549	lung
29	chr11:93880000-93883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:93880000-93885000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:93880000-93885200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:93880200-93882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:93880200-93886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:93880400-93886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:93880600-93882600	Enhancers	Brain Germinal Matrix	brain
36	chr11:93880600-93886200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:93880800-93883800	Enhancers	NHEK	skin
38	chr11:93880800-93884000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:93880800-93886200	Enhancers	HMEC	breast
40	chr11:93880800-93886600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:93880800-93887400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:93881000-93883200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:93881000-93883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:93881000-93883400	Weak transcription	K562	blood
45	chr11:93881000-93884000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:93881000-93884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:93881000-93886600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:93881000-93888000	Enhancers	Fetal Intestine Large	intestine
49	chr11:93881200-93883400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:93881200-93884000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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