Variant report

Variant	rs2309314
Chromosome Location	chr2:98553652-98553653
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98528410..98530497-chr2:98551746..98553885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238719	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1026015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022373	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022797	1.00[EUR][1000 genomes]
rs17022803	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023420	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025147	0.85[EUR][1000 genomes]
rs17025319	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61729688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737466	1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs6748814	1.00[EUR][1000 genomes]
rs72942819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98544400-98554400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:98545800-98554000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:98547400-98554000	Enhancers	Fetal Lung	lung
4	chr2:98549800-98553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:98549800-98554000	Enhancers	NHDF-Ad	bronchial
6	chr2:98550000-98554000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:98550200-98554200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:98550400-98553800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:98550400-98554200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:98550800-98553800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:98550800-98554000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:98551000-98553800	Enhancers	Brain Anterior Caudate	brain
13	chr2:98551400-98553800	Enhancers	Adipose Nuclei	Adipose
14	chr2:98551400-98554000	Enhancers	Stomach Mucosa	stomach
15	chr2:98551600-98554000	Enhancers	Dnd41	blood
16	chr2:98551800-98554000	Enhancers	Primary B cells from cord blood	blood
17	chr2:98552000-98554200	Enhancers	Osteobl	bone
18	chr2:98552200-98553800	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:98552200-98553800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:98552200-98553800	Enhancers	Brain Angular Gyrus	brain
21	chr2:98552200-98553800	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:98552200-98553800	Enhancers	HepG2	liver
23	chr2:98552200-98554000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:98552200-98554000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:98552400-98553800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:98552400-98553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:98552400-98553800	Enhancers	Fetal Brain Male	brain
28	chr2:98552400-98553800	Enhancers	Fetal Stomach	stomach
29	chr2:98552400-98554000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:98552400-98554200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:98552600-98553800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:98553000-98554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:98553000-98559600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:98553000-98561600	Weak transcription	Primary T cells from cord blood	blood
35	chr2:98553200-98565800	Weak transcription	Small Intestine	intestine
36	chr2:98553400-98553800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:98553600-98553800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:98553600-98553800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:98553600-98554000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:98553600-98554000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:98553600-98554000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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