Variant report

Variant	rs62022310
Chromosome Location	chr15:42736051-42736052
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	chr15:42735553..42738272-chr15:42739386..42741168,2	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11632226	0.84[AFR][1000 genomes]
rs11635041	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638666	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11638754	1.00[AFR][1000 genomes]
rs11639355	1.00[AFR][1000 genomes]
rs12438745	1.00[AFR][1000 genomes]
rs12438846	0.83[AFR][1000 genomes]
rs12440118	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16973265	0.85[EUR][1000 genomes]
rs17709596	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2595938	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4267280	0.92[AFR][1000 genomes]
rs60569090	0.92[EUR][1000 genomes]
rs61115119	0.93[EUR][1000 genomes]
rs62022308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62022313	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62022314	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62022315	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62022316	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62022318	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72707477	0.96[AFR][1000 genomes]
rs72707484	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8027283	0.86[EUR][1000 genomes]
rs8036544	0.86[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	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62022310	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr15:42702400-42744200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:42702400-42744200	Strong transcription	Liver	Liver
11	chr15:42702600-42738800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:42702600-42744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:42702800-42744400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr15:42704000-42744400	Strong transcription	Fetal Lung	lung
15	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:42704600-42744200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:42706400-42744200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr15:42707000-42739400	Strong transcription	Left Ventricle	heart
20	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
21	chr15:42710200-42740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:42711800-42749200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:42720400-42736400	Weak transcription	Psoas Muscle	Psoas
24	chr15:42720400-42759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:42721000-42744400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:42721200-42738000	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:42721800-42747400	Strong transcription	HSMM	muscle
28	chr15:42723200-42742000	Weak transcription	Small Intestine	intestine
29	chr15:42724400-42744200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:42727400-42745600	Strong transcription	GM12878-XiMat	blood
31	chr15:42729200-42740400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:42729400-42736400	Weak transcription	Brain Substantia Nigra	brain
33	chr15:42729600-42736400	Weak transcription	A549	lung
34	chr15:42729600-42736800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:42729600-42737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:42729600-42739600	Weak transcription	Fetal Kidney	kidney
37	chr15:42730000-42736400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:42730000-42739000	Weak transcription	Pancreas	Pancrea
39	chr15:42730800-42746800	Strong transcription	Hela-S3	cervix
40	chr15:42731400-42740200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:42731600-42737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:42732000-42736600	Weak transcription	Brain Angular Gyrus	brain
43	chr15:42732200-42736600	Weak transcription	Ovary	ovary
44	chr15:42732200-42736600	Weak transcription	HUVEC	blood vessel
45	chr15:42732400-42746200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:42732600-42746200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:42732800-42737600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:42732800-42744200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:42733000-42741000	Strong transcription	Fetal Intestine Small	intestine
50	chr15:42733000-42745200	Strong transcription	Fetal Stomach	stomach

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