Variant report

Variant	rs1587754
Chromosome Location	chr1:58976948-58976949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17117608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117744	1.00[AMR][1000 genomes]
rs6661385	1.00[AMR][1000 genomes]
rs6667079	1.00[AMR][1000 genomes]
rs6698932	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
4	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:58934800-58994000	Weak transcription	HSMM	muscle
6	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
8	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:58948400-58977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:58952800-58977200	Weak transcription	Small Intestine	intestine
13	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
14	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:58955000-58986400	Weak transcription	Gastric	stomach
16	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:58964200-58978600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:58964800-58986400	Weak transcription	K562	blood
20	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
21	chr1:58967600-59010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:58968200-58986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:58968400-58984600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:58969200-58977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:58972000-58977000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:58972200-58977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:58973800-58980600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:58974400-58978600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:58974600-58977000	Weak transcription	Lung	lung
30	chr1:58974600-58977000	Weak transcription	Thymus	Thymus
31	chr1:58974600-58987600	Weak transcription	Right Ventricle	heart
32	chr1:58974800-58977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:58974800-58977000	Weak transcription	Primary T cells from cord blood	blood
34	chr1:58974800-58977000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:58974800-58977000	Weak transcription	Aorta	Aorta
36	chr1:58974800-58977000	Weak transcription	Liver	Liver
37	chr1:58974800-58977000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:58974800-58977000	Weak transcription	Fetal Stomach	stomach
39	chr1:58974800-58977000	Weak transcription	Fetal Thymus	thymus
40	chr1:58974800-58977000	Weak transcription	Left Ventricle	heart
41	chr1:58974800-58977000	Weak transcription	Ovary	ovary
42	chr1:58974800-58977000	Weak transcription	Pancreas	Pancrea
43	chr1:58974800-58977800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:58974800-58978800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:58974800-58981800	Weak transcription	Brain Substantia Nigra	brain
46	chr1:58974800-58984600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:58974800-58984600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:58974800-58984800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:58974800-58991600	Weak transcription	Esophagus	oesophagus
50	chr1:58974800-59005000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links