Variant report

Variant	rs28548238
Chromosome Location	chr8:59558469-59558470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10086130	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093782	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10099231	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16923631	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054900	1.00[EUR][1000 genomes]
rs2228505	1.00[EUR][1000 genomes]
rs2279459	1.00[EUR][1000 genomes]
rs3816847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737505	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4738695	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58866790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60289621	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60504120	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60780937	1.00[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:117 , 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	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
5	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
9	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
10	chr8:59541600-59559400	Weak transcription	HepG2	liver
11	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
12	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:59543200-59559600	Weak transcription	Lung	lung
14	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
17	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
20	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:59545800-59559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:59546000-59559600	Weak transcription	Gastric	stomach
24	chr8:59546000-59560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:59546000-59561200	Weak transcription	Esophagus	oesophagus
26	chr8:59546200-59560200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:59546200-59561400	Weak transcription	Aorta	Aorta
28	chr8:59546200-59563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:59546400-59559400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:59547200-59570200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:59547600-59564000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:59549600-59559400	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:59551000-59560000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:59551000-59560200	Weak transcription	Fetal Stomach	stomach
35	chr8:59551000-59560600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:59551000-59570400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:59551200-59560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:59551200-59561200	Weak transcription	Placenta	Placenta
39	chr8:59551400-59560000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:59551600-59559400	Weak transcription	Fetal Heart	heart
41	chr8:59551800-59560800	Weak transcription	Fetal Intestine Small	intestine
42	chr8:59552000-59561200	Weak transcription	Thymus	Thymus
43	chr8:59552600-59561000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:59552600-59570400	Weak transcription	Liver	Liver
45	chr8:59552800-59559400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:59552800-59559600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:59552800-59560800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:59552800-59561200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:59552800-59561200	Weak transcription	Fetal Intestine Large	intestine
50	chr8:59552800-59562200	Weak transcription	Duodenum Mucosa	Duodenum

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