Variant report

Variant	rs28819228
Chromosome Location	chr8:59552281-59552282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59545597..59547172-chr8:59551172..59553304,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12334684	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2255834	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2634530	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2634534	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2680897	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2680899	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2680901	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2946578	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4737504	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4738699	0.91[ASN][1000 genomes]
rs6987187	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7820921	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7836960	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs901954	0.92[AMR][1000 genomes];0.85[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
6	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:59520600-59554600	Weak transcription	HMEC	breast
8	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:59524200-59554400	Weak transcription	NHEK	skin
10	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:59533800-59553000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:59535800-59552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
15	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
16	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:59541200-59553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
19	chr8:59541400-59555200	Strong transcription	Dnd41	blood
20	chr8:59541600-59559400	Weak transcription	HepG2	liver
21	chr8:59541800-59552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:59542000-59553400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:59542400-59555400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:59542600-59554200	Weak transcription	NHLF	lung
25	chr8:59542800-59554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
27	chr8:59543000-59555800	Weak transcription	Psoas Muscle	Psoas
28	chr8:59543200-59554200	Weak transcription	NH-A	brain
29	chr8:59543200-59555800	Weak transcription	Ovary	ovary
30	chr8:59543200-59555800	Weak transcription	Pancreas	Pancrea
31	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:59543200-59559600	Weak transcription	Lung	lung
33	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
36	chr8:59543400-59555400	Weak transcription	HSMMtube	muscle
37	chr8:59543400-59557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
41	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
42	chr8:59543600-59554000	Weak transcription	Hela-S3	cervix
43	chr8:59543600-59555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:59543600-59557800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:59545000-59552800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:59545200-59552800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:59545200-59552800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:59545400-59553000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:59545400-59556000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:59545600-59554400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links