Variant report

Variant	rs17111588
Chromosome Location	chr1:94958277-94958278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94941332..94943153-chr1:94956990..94959761,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17111277	1.00[AMR][1000 genomes]
rs17111438	1.00[AMR][1000 genomes]
rs17111477	1.00[AMR][1000 genomes]
rs17111528	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111561	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111563	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111571	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111580	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
2	chr1:94914800-94985800	Weak transcription	NHLF	lung
3	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
4	chr1:94916000-94969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:94916000-94970000	Weak transcription	Ovary	ovary
6	chr1:94916000-94970000	Weak transcription	Spleen	Spleen
7	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
8	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
9	chr1:94916200-94968400	Weak transcription	Gastric	stomach
10	chr1:94916200-94971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:94916200-94974200	Weak transcription	Lung	lung
12	chr1:94917200-94964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:94917800-94971800	Weak transcription	NHEK	skin
14	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
16	chr1:94924000-94964400	Weak transcription	GM12878-XiMat	blood
17	chr1:94924800-94968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:94929400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:94929600-94985400	Weak transcription	Fetal Brain Female	brain
20	chr1:94930800-94974000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:94937400-94967000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:94937600-94971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:94938600-94958800	Strong transcription	Fetal Thymus	thymus
24	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
25	chr1:94942600-94964600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:94943200-94961600	Weak transcription	HUVEC	blood vessel
27	chr1:94943200-94967600	Weak transcription	Fetal Stomach	stomach
28	chr1:94944200-94965800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:94947400-94964400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:94947600-94958600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:94947600-94964400	Weak transcription	Stomach Mucosa	stomach
33	chr1:94947800-94958600	Strong transcription	Liver	Liver
34	chr1:94950000-94958600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:94950000-94958600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:94950400-94958600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:94951800-94958400	Strong transcription	Primary T cells from cord blood	blood
38	chr1:94951800-94968000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:94952800-94987800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
41	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:94953000-94958600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:94953000-94970200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:94953200-94958400	Strong transcription	Fetal Intestine Large	intestine
45	chr1:94953200-94958600	Strong transcription	Placenta	Placenta
46	chr1:94953200-94958600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:94953200-94971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:94953400-94958600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:94953600-94958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:94953800-94958400	Strong transcription	Rectal Mucosa Donor 29	rectum

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