Variant report

Variant	rs11633112
Chromosome Location	chr15:42856349-42856350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42850114..42852247-chr15:42855444..42857535,2	K562	blood:
2	chr15:42854171..42864590-chr15:42864872..42869799,12	K562	blood:
3	chr15:42855494..42857538-chr15:42865906..42867883,2	K562	blood:

Variant related genes	Relation type
ENSG00000137814	Chromatin interaction
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10454692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1048571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11070375	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11630625	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11630681	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635041	0.84[EUR][1000 genomes]
rs11635076	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11635889	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11636209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12438021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12439377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12440506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17709867	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17766258	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17767264	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41315252	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56069741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172155	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019282	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019285	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019287	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019294	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62019312	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62019315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62019320	0.87[AMR][1000 genomes]
rs62019322	0.87[AMR][1000 genomes]
rs62022318	0.81[EUR][1000 genomes]
rs7182376	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8039240	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8042618	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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
rs11633112	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	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
2	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:42841800-42867000	Weak transcription	Ovary	ovary
4	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
5	chr15:42842400-42867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:42842600-42867400	Weak transcription	Small Intestine	intestine
7	chr15:42842800-42857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:42842800-42857400	Weak transcription	Brain Substantia Nigra	brain
9	chr15:42842800-42867000	Weak transcription	Fetal Kidney	kidney
10	chr15:42843000-42863000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:42843600-42857400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:42847000-42860000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:42848000-42861400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:42848600-42861200	Strong transcription	Fetal Intestine Large	intestine
15	chr15:42849200-42861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42849400-42866800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:42849600-42859600	Strong transcription	K562	blood
18	chr15:42849800-42859800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:42849800-42859800	Strong transcription	Dnd41	blood
20	chr15:42849800-42860000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:42849800-42860000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:42849800-42860400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:42849800-42861000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:42849800-42861200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:42849800-42861200	Strong transcription	GM12878-XiMat	blood
26	chr15:42849800-42862800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:42850000-42859400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:42850000-42861400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr15:42850000-42862800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:42850200-42856800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:42850200-42859800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:42850200-42859800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:42850200-42861000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:42850200-42861200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr15:42850200-42861200	Strong transcription	Primary T cells from cord blood	blood
36	chr15:42850400-42859800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:42850400-42861200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:42850400-42861200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:42850600-42859800	Strong transcription	Thymus	Thymus
40	chr15:42850600-42860600	Strong transcription	Fetal Intestine Small	intestine
41	chr15:42850600-42861200	Strong transcription	Fetal Thymus	thymus
42	chr15:42850800-42859600	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:42850800-42861000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:42850800-42861000	Strong transcription	Brain Germinal Matrix	brain
45	chr15:42850800-42861000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:42850800-42861200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr15:42850800-42861400	Strong transcription	Adipose Nuclei	Adipose
48	chr15:42851000-42859400	Strong transcription	Primary B cells from cord blood	blood
49	chr15:42851000-42859400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:42851000-42859600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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