Variant report

Variant	rs62022318
Chromosome Location	chr15:42772940-42772941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42702459..42704765-chr15:42771553..42773053,2	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10454692	0.84[EUR][1000 genomes]
rs1048571	0.84[EUR][1000 genomes]
rs11630625	0.85[EUR][1000 genomes]
rs11630681	0.84[EUR][1000 genomes]
rs11633112	0.81[EUR][1000 genomes]
rs11635041	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635076	0.86[EUR][1000 genomes]
rs11636209	0.86[EUR][1000 genomes]
rs11638666	0.83[EUR][1000 genomes]
rs12438021	0.84[EUR][1000 genomes]
rs12439377	0.84[EUR][1000 genomes]
rs12440118	0.82[AMR][1000 genomes]
rs12440506	0.84[EUR][1000 genomes]
rs16973265	0.86[EUR][1000 genomes]
rs17709596	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17709867	0.84[EUR][1000 genomes]
rs2595938	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41315252	0.84[EUR][1000 genomes]
rs56069741	0.81[EUR][1000 genomes]
rs62019280	0.86[EUR][1000 genomes]
rs62019282	0.86[EUR][1000 genomes]
rs62019285	0.86[EUR][1000 genomes]
rs62019287	0.86[EUR][1000 genomes]
rs62019294	0.84[EUR][1000 genomes]
rs62019312	0.84[EUR][1000 genomes]
rs62019315	0.84[EUR][1000 genomes]
rs62022308	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62022310	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62022313	0.82[AMR][1000 genomes]
rs62022314	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62022315	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62022316	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7182376	0.81[EUR][1000 genomes]
rs72707484	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72711767	0.84[EUR][1000 genomes]
rs8036544	0.87[EUR][1000 genomes]
rs8039240	0.86[EUR][1000 genomes]
rs8042618	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62022318	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42744200-42781800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:42744200-42782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:42750000-42782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:42750200-42782400	Weak transcription	Aorta	Aorta
5	chr15:42750800-42782400	Weak transcription	Ovary	ovary
6	chr15:42751000-42782400	Weak transcription	Fetal Lung	lung
7	chr15:42754600-42782400	Weak transcription	HSMMtube	muscle
8	chr15:42756000-42777600	Weak transcription	Lung	lung
9	chr15:42756000-42782600	Weak transcription	Esophagus	oesophagus
10	chr15:42756200-42782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:42757800-42782600	Weak transcription	Gastric	stomach
12	chr15:42758000-42781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:42758000-42782400	Weak transcription	NHLF	lung
14	chr15:42758200-42776200	Weak transcription	HepG2	liver
15	chr15:42758200-42781600	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:42758200-42781600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:42758200-42781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:42758400-42775400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:42758400-42775400	Weak transcription	Spleen	Spleen
20	chr15:42758400-42776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:42758400-42780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:42758400-42780400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:42758400-42780600	Weak transcription	NHEK	skin
24	chr15:42758400-42781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:42758400-42781800	Weak transcription	Brain Anterior Caudate	brain
26	chr15:42758400-42782200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:42758400-42782200	Weak transcription	Fetal Brain Female	brain
28	chr15:42758400-42782200	Weak transcription	Thymus	Thymus
29	chr15:42759800-42782200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:42760200-42775000	Weak transcription	Primary B cells from cord blood	blood
31	chr15:42761400-42782000	Weak transcription	Fetal Stomach	stomach
32	chr15:42761600-42775000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:42761800-42782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:42762400-42775400	Weak transcription	Placenta	Placenta
35	chr15:42763400-42777200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr15:42763400-42777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:42763400-42777400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:42763400-42782400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:42763600-42774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:42763600-42775000	Weak transcription	Dnd41	blood
41	chr15:42763600-42780000	Weak transcription	Hela-S3	cervix
42	chr15:42763600-42780800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:42763600-42781600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:42763600-42782200	Weak transcription	HMEC	breast
45	chr15:42763800-42774600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:42763800-42775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:42763800-42775000	Weak transcription	Fetal Thymus	thymus
48	chr15:42763800-42782400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:42763800-42782400	Weak transcription	Fetal Intestine Large	intestine
50	chr15:42763800-42782400	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links