Variant report

Variant	rs73348706
Chromosome Location	chr20:25028693-25028694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25018135..25021325-chr20:25025439..25028774,3	MCF-7	breast:
2	chr20:25028498..25030240-chr4:2818576..2820268,2	MCF-7	breast:
3	chr20:25022614..25025327-chr20:25028235..25031123,4	MCF-7	breast:
4	chr20:25026036..25030944-chr20:25033529..25038477,7	MCF-7	breast:
5	chr20:25027984..25032783-chr20:25034265..25037344,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11907817	0.97[AFR][1000 genomes]
rs11908357	0.97[AFR][1000 genomes]
rs2150647	1.00[AMR][1000 genomes]
rs2150648	1.00[AMR][1000 genomes]
rs4392331	1.00[AMR][1000 genomes]
rs61529650	1.00[AMR][1000 genomes]
rs7265897	0.97[AFR][1000 genomes]
rs7265967	0.97[AFR][1000 genomes]
rs7266133	0.95[AFR][1000 genomes]
rs7270177	0.97[AFR][1000 genomes]
rs73346970	1.00[AMR][1000 genomes]
rs73346980	1.00[AMR][1000 genomes]
rs73348704	1.00[AMR][1000 genomes]
rs73348715	0.97[AFR][1000 genomes]
rs73348717	0.97[AFR][1000 genomes]
rs73348722	0.97[AFR][1000 genomes]
rs8114568	0.97[AFR][1000 genomes]
rs8121327	0.97[AFR][1000 genomes]
rs8123923	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25016600-25034800	Weak transcription	A549	lung
2	chr20:25017800-25029000	Genic enhancers	Placenta	Placenta
3	chr20:25017800-25034200	Weak transcription	Fetal Kidney	kidney
4	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
5	chr20:25021200-25032600	Weak transcription	NHDF-Ad	bronchial
6	chr20:25022200-25033000	Weak transcription	Brain Germinal Matrix	brain
7	chr20:25024000-25032400	Weak transcription	Small Intestine	intestine
8	chr20:25024200-25031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:25024400-25032400	Strong transcription	Fetal Intestine Small	intestine
10	chr20:25024400-25032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:25024400-25032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr20:25024400-25033000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr20:25024600-25029000	Genic enhancers	Pancreas	Pancrea
14	chr20:25024600-25029200	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr20:25024600-25031800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr20:25024600-25033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr20:25024800-25028800	Strong transcription	Fetal Stomach	stomach
18	chr20:25025200-25029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:25025400-25028800	Genic enhancers	Lung	lung
20	chr20:25025400-25028800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr20:25025400-25029000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:25025400-25029600	Strong transcription	Dnd41	blood
23	chr20:25025400-25030600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr20:25025600-25029400	Strong transcription	Primary T cells from cord blood	blood
25	chr20:25025800-25029000	Strong transcription	Spleen	Spleen
26	chr20:25026000-25028800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr20:25026000-25029000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr20:25026000-25029200	Genic enhancers	Brain Hippocampus Middle	brain
29	chr20:25026000-25029400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr20:25026000-25030200	Enhancers	Liver	Liver
31	chr20:25026200-25029000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr20:25026200-25029400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr20:25026200-25029600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr20:25026400-25028800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr20:25026400-25029200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:25026400-25029200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:25026400-25029400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:25026400-25032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:25026400-25033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:25026400-25034600	Enhancers	Fetal Heart	heart
41	chr20:25026600-25028800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr20:25026800-25028800	Strong transcription	Adipose Nuclei	Adipose
43	chr20:25026800-25029000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr20:25026800-25029200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr20:25026800-25029200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr20:25026800-25029200	Strong transcription	Fetal Thymus	thymus
47	chr20:25026800-25029200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr20:25026800-25029400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr20:25026800-25032200	Strong transcription	Thymus	Thymus
50	chr20:25027000-25028800	Genic enhancers	Aorta	Aorta

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