Variant report

Variant	rs11070375
Chromosome Location	chr15:42870587-42870588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42869958..42872408-chr15:42873710..42876257,4	K562	blood:
2	chr15:42840090..42842755-chr15:42865653..42870684,5	K562	blood:
3	chr15:42867986..42870891-chr15:43024060..43026740,2	K562	blood:

Variant related genes	Relation type
ENSG00000180979	Chromatin interaction
ENSG00000137814	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10454692	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1048571	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11630625	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11630681	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11633112	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11635076	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11635889	0.89[AMR][1000 genomes]
rs11636209	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12438021	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12439377	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12440506	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12910538	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12914539	0.82[EUR][1000 genomes]
rs17709867	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17766258	0.84[AMR][1000 genomes]
rs17767264	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17767270	0.95[EUR][1000 genomes]
rs41315252	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56069741	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56172155	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019280	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019282	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019285	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019287	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019294	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62019312	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62019315	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62019320	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62019322	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7182376	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72711767	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8039240	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8042618	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs11070375	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42868400-42873200	Weak transcription	Pancreas	Pancrea
2	chr15:42868600-42873400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:42868600-42873400	Weak transcription	Gastric	stomach
4	chr15:42868800-42870800	Enhancers	HSMM	muscle
5	chr15:42868800-42873200	Weak transcription	Lung	lung
6	chr15:42868800-42873200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:42868800-42873200	Weak transcription	Right Ventricle	heart
8	chr15:42868800-42873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:42868800-42873400	Weak transcription	Spleen	Spleen
10	chr15:42869000-42871400	Enhancers	Brain Angular Gyrus	brain
11	chr15:42869000-42873000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:42869000-42873000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:42869000-42873000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:42869000-42873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:42869000-42873200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:42869000-42873200	Weak transcription	A549	lung
17	chr15:42869000-42873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
19	chr15:42869200-42870800	Enhancers	Brain Germinal Matrix	brain
20	chr15:42869200-42870800	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:42869200-42870800	Enhancers	Rectal Smooth Muscle	rectum
22	chr15:42869200-42870800	Weak transcription	Hela-S3	cervix
23	chr15:42869200-42873200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:42869200-42873200	Weak transcription	Primary T cells from cord blood	blood
25	chr15:42869200-42873200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:42869200-42873200	Weak transcription	Colonic Mucosa	Colon
27	chr15:42869200-42873200	Weak transcription	NHEK	skin
28	chr15:42869200-42873400	Enhancers	Fetal Heart	heart
29	chr15:42869200-42873400	Weak transcription	HMEC	breast
30	chr15:42869400-42870600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:42869400-42873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:42869400-42873200	Weak transcription	Primary B cells from cord blood	blood
33	chr15:42869400-42873200	Weak transcription	Fetal Brain Female	brain
34	chr15:42869600-42873200	Weak transcription	Fetal Brain Male	brain
35	chr15:42869800-42870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:42869800-42871400	Enhancers	Aorta	Aorta
37	chr15:42869800-42871400	Enhancers	Right Atrium	heart
38	chr15:42869800-42873000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:42869800-42873000	Weak transcription	HepG2	liver
40	chr15:42870000-42870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:42870000-42870800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:42870000-42870800	Enhancers	NHDF-Ad	bronchial
43	chr15:42870000-42871200	Weak transcription	K562	blood
44	chr15:42870000-42873000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:42870000-42873000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:42870000-42873200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:42870000-42873200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:42870000-42873200	Weak transcription	Brain Anterior Caudate	brain
49	chr15:42870000-42873200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:42870000-42873200	Weak transcription	Brain Inferior Temporal Lobe	brain

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