Variant report

Variant	rs28420126
Chromosome Location	chr2:172304185-172304186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172302248..172305300-chr2:172308387..172310515,4	K562	blood:
2	chr2:172277942..172280188-chr2:172302805..172305660,3	K562	blood:
3	chr2:172303800..172305343-chr2:172308455..172311256,2	K562	blood:
4	chr2:172302577..172305369-chr2:172330311..172333042,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction

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

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

rs_ID	r²[population]
rs10185917	0.84[ASN][1000 genomes]
rs10490604	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11677562	0.80[ASN][1000 genomes]
rs12052810	0.80[ASN][1000 genomes]
rs1476111	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17221346	0.82[EUR][1000 genomes]
rs28742013	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55999882	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62183504	0.80[ASN][1000 genomes]
rs6433291	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718740	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6751956	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7594714	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs997666	0.80[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
4	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
5	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:172294000-172304200	Weak transcription	Fetal Lung	lung
19	chr2:172294200-172304200	Weak transcription	Fetal Kidney	kidney
20	chr2:172295000-172309600	Strong transcription	HepG2	liver
21	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:172296000-172304400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:172296800-172304200	Weak transcription	NH-A	brain
25	chr2:172297000-172313000	Weak transcription	A549	lung
26	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:172298200-172304200	Weak transcription	Lung	lung
28	chr2:172298200-172304200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:172298200-172310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
32	chr2:172298400-172304200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:172298400-172304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:172298400-172304200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:172298400-172304200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:172298400-172304200	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:172298400-172304200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:172298400-172304400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:172298400-172304400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:172298400-172304400	Weak transcription	HSMMtube	muscle
41	chr2:172298400-172305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:172298400-172305400	Weak transcription	Aorta	Aorta
43	chr2:172298400-172306600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:172298400-172311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:172298400-172314200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
48	chr2:172298400-172326200	Weak transcription	NHEK	skin
49	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
50	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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