Variant report

Variant	rs72781498
Chromosome Location	chr5:94958309-94958310
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94951476..94954294-chr5:94957994..94960881,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17084946	0.87[EUR][1000 genomes]
rs17084956	0.87[EUR][1000 genomes]
rs34297786	0.87[EUR][1000 genomes]
rs59387574	0.87[EUR][1000 genomes]
rs6890085	0.91[EUR][1000 genomes]
rs6899234	0.91[EUR][1000 genomes]
rs7733834	0.83[EUR][1000 genomes]
rs7733871	0.83[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3421596	chr5:94954196-94958694	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1842645	chr5:94955602-94962981	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3340930	chr5:94955821-94958369	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1793809	chr5:94956266-94962981	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1795334	chr5:94956266-94962981	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv598958	chr5:94956345-94962981	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv598959	chr5:94956345-94963181	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:94957200-94958400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:94957200-94958600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr5:94957200-94958600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr5:94957200-94958600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr5:94957200-94958600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:94957400-94958400	Bivalent Enhancer	Fetal Thymus	thymus
8	chr5:94957400-94958400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:94957400-94958600	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:94957600-94958800	Enhancers	Primary B cells from cord blood	blood
11	chr5:94957600-94959200	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:94957800-94958400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:94957800-94958400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:94957800-94958400	Enhancers	GM12878-XiMat	blood
15	chr5:94957800-94958400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr5:94957800-94958600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:94957800-94963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:94957800-94967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:94958000-94958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:94958000-94958600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr5:94958000-94958800	Enhancers	Dnd41	blood
22	chr5:94958000-94959400	Enhancers	Thymus	Thymus
23	chr5:94958200-94958400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:94958200-94958400	Enhancers	Fetal Intestine Large	intestine
25	chr5:94958200-94958400	Enhancers	Fetal Intestine Small	intestine
26	chr5:94958200-94958400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:94958200-94959000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:94958200-94959000	Weak transcription	Pancreas	Pancrea
29	chr5:94958200-94959200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:94958200-94959400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:94958200-94960200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:94958200-94960200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:94958200-94960200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:94958200-94960800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:94958200-94961000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:94958200-94961000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:94958200-94964600	Weak transcription	Adipose Nuclei	Adipose
38	chr5:94958200-94967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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