Variant report

Variant	rs2383556
Chromosome Location	chr1:186935641-186935642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1124429	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12720548	1.00[YRI][hapmap]
rs12720684	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12720702	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12720704	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12720707	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12720717	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2891264	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4651345	0.87[EUR][1000 genomes]
rs55834900	0.87[EUR][1000 genomes]
rs6675898	1.00[CEU][hapmap]
rs6686848	1.00[CEU][hapmap]
rs6698103	1.00[CEU][hapmap]
rs72714329	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7511652	0.87[EUR][1000 genomes]
rs7522159	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7544719	0.87[EUR][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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:186900000-186935800	Weak transcription	NHDF-Ad	bronchial
4	chr1:186919000-186937000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:186919600-186944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:186920400-186939000	Weak transcription	A549	lung
7	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:186926800-186936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:186927400-186943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:186928000-186936400	Weak transcription	NH-A	brain
12	chr1:186930200-186943800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:186931200-186936400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:186931200-186936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:186932400-186936800	Weak transcription	HMEC	breast
16	chr1:186932400-186937200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:186933200-186936000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186933200-186936000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:186933200-186936600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:186933200-186936600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:186933200-186939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:186933400-186936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:186933600-186936000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr1:186933600-186936200	Strong transcription	Hela-S3	cervix
25	chr1:186934000-186935800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:186934000-186937000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:186935000-186950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:186935200-186936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:186935400-186935800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:186935400-186935800	Enhancers	HepG2	liver
31	chr1:186935400-186936600	Enhancers	Fetal Intestine Large	intestine
32	chr1:186935600-186943400	Weak transcription	Adipose Nuclei	Adipose

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