Variant report

Variant	rs3020017
Chromosome Location	chr11:93917068-93917069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93916648..93917265-chr11:94150276..94150816,3	MCF-7	breast:
2	chr11:93654636..93655438-chr11:93916836..93917602,2	MCF-7	breast:
3	chr11:93916747..93917349-chr11:94058220..94059212,2	MCF-7	breast:
4	chr11:93916755..93917614-chr11:94150312..94151338,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1014500	0.82[AMR][1000 genomes]
rs10444216	0.81[CEU][hapmap]
rs1046805	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1046812	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1070	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10765655	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs10765656	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11020675	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11605491	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1540177	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16920011	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1789650	0.84[AMR][1000 genomes]
rs1789653	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1789655	0.82[EUR][1000 genomes]
rs1792624	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1792634	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1857681	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs1893808	0.81[AMR][1000 genomes]
rs1893809	0.81[AMR][1000 genomes]
rs3020014	0.81[CEU][hapmap]
rs3020015	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.83[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:93904800-93920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:93905400-93919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:93907200-93919600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:93909200-93917400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:93909400-93917400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:93909400-93918400	Weak transcription	Fetal Heart	heart
10	chr11:93909800-93917200	Weak transcription	HUVEC	blood vessel
11	chr11:93910400-93919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:93910600-93917200	Strong transcription	Dnd41	blood
13	chr11:93910600-93919200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:93911600-93917200	Weak transcription	Colonic Mucosa	Colon
15	chr11:93912200-93921000	Weak transcription	Brain Anterior Caudate	brain
16	chr11:93912600-93917200	Strong transcription	NHEK	skin
17	chr11:93913400-93917200	Weak transcription	K562	blood
18	chr11:93913600-93919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:93913600-93929400	Weak transcription	Gastric	stomach
20	chr11:93913800-93921400	Weak transcription	Fetal Brain Male	brain
21	chr11:93914200-93917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:93914400-93917200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:93914400-93920400	Weak transcription	Primary B cells from cord blood	blood
24	chr11:93914600-93917200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:93914800-93917200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:93914800-93917200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:93914800-93917200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:93914800-93917200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:93914800-93918400	Weak transcription	Psoas Muscle	Psoas
30	chr11:93914800-93919800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:93914800-93920400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:93914800-93920600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:93914800-93921000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:93914800-93921600	Weak transcription	Thymus	Thymus
35	chr11:93914800-93926200	Weak transcription	Esophagus	oesophagus
36	chr11:93914800-93926200	Weak transcription	Spleen	Spleen
37	chr11:93915000-93917200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:93915000-93917200	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:93915000-93917200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:93915000-93917200	Weak transcription	Osteobl	bone
41	chr11:93915000-93917400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:93915000-93921000	Weak transcription	Right Ventricle	heart
43	chr11:93915200-93918400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:93915400-93917400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:93915400-93919000	Weak transcription	Fetal Brain Female	brain
46	chr11:93915600-93917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:93915600-93920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:93915600-93929400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:93915800-93919000	Enhancers	Fetal Kidney	kidney
50	chr11:93916000-93917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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