Variant report

Variant	rs59300656
Chromosome Location	chr1:186927994-186927995
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	chr1:186926978..186929684-chr1:186930971..186933125,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10911972	0.98[ASN][1000 genomes]
rs2891261	0.98[ASN][1000 genomes]
rs4276871	0.98[ASN][1000 genomes]
rs5027750	0.98[ASN][1000 genomes]
rs60979573	0.87[ASN][1000 genomes]
rs61208933	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6661772	0.83[EUR][1000 genomes]
rs6675166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675898	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678709	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688358	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66896520	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697116	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698103	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67334743	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67896462	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72641703	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7526761	0.89[AFR][1000 genomes];0.96[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:186900000-186935800	Weak transcription	NHDF-Ad	bronchial
6	chr1:186908000-186933800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:186909800-186932600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:186912400-186934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:186917000-186929000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:186917400-186934800	Weak transcription	Colonic Mucosa	Colon
11	chr1:186919000-186937000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186919600-186944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:186919800-186928600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:186920400-186933600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186920400-186939000	Weak transcription	A549	lung
16	chr1:186921600-186935400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:186923800-186928000	Weak transcription	Fetal Lung	lung
19	chr1:186925200-186928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186925400-186929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:186926000-186928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:186926800-186929200	Weak transcription	Fetal Stomach	stomach
23	chr1:186926800-186933400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:186926800-186933600	Weak transcription	Hela-S3	cervix
25	chr1:186926800-186936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:186927000-186928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:186927000-186930200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:186927000-186933600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:186927200-186933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:186927200-186934000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:186927400-186930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:186927400-186943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:186927600-186928000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:186927600-186928000	Enhancers	NHEK	skin
36	chr1:186927800-186928000	Enhancers	NH-A	brain
37	chr1:186927800-186929800	Weak transcription	Stomach Smooth Muscle	stomach

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