Variant report

Variant	rs36123985
Chromosome Location	chr4:88113053-88113054
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88112029..88115126-chr4:88139994..88142712,4	MCF-7	breast:
2	chr4:88112928..88115867-chr4:88140450..88142503,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10049549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12710836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13105620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13126252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13134294	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13134907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13140294	0.84[AMR][1000 genomes]
rs13142380	1.00[AFR][1000 genomes]
rs13143182	1.00[AFR][1000 genomes]
rs13145898	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13435811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17704256	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17755195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035404	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2054611	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28390247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28668976	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28773027	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34128785	0.84[AMR][1000 genomes]
rs34242006	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34422965	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34589806	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35133616	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35534149	1.00[AFR][1000 genomes]
rs35542725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71607405	0.80[AMR][1000 genomes]
rs71607407	1.00[AFR][1000 genomes]
rs71607410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36123985	MAPKAPK5	trans	lymphoblastoid	RTeQTL
rs36123985	KLHL8	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88068000-88116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
3	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
4	chr4:88082600-88120000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:88083000-88116400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:88084800-88113600	Weak transcription	HSMM	muscle
7	chr4:88085000-88128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:88089600-88113600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:88089600-88131000	Weak transcription	Ovary	ovary
10	chr4:88089800-88115800	Weak transcription	HepG2	liver
11	chr4:88090000-88118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:88091400-88118200	Weak transcription	Brain Anterior Caudate	brain
13	chr4:88091800-88115000	Weak transcription	Left Ventricle	heart
14	chr4:88091800-88128000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:88091800-88128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:88092200-88134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:88093000-88113200	Weak transcription	K562	blood
19	chr4:88093800-88113400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:88093800-88119600	Weak transcription	Primary T cells from cord blood	blood
21	chr4:88096800-88115400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:88097600-88125200	Weak transcription	Primary B cells from cord blood	blood
23	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:88098000-88114800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:88098000-88127400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:88098800-88115600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:88099000-88118400	Weak transcription	Fetal Intestine Large	intestine
28	chr4:88099800-88115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:88100400-88119200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:88108600-88115600	Weak transcription	Gastric	stomach
31	chr4:88109600-88133600	Weak transcription	Fetal Lung	lung
32	chr4:88110200-88113600	Weak transcription	HSMMtube	muscle
33	chr4:88110400-88113600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:88110400-88113600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:88110400-88115200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:88110400-88118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:88110400-88127600	Weak transcription	Liver	Liver
38	chr4:88110800-88114000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:88110800-88128200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:88111000-88120200	Weak transcription	Fetal Kidney	kidney
41	chr4:88113000-88113800	Enhancers	Osteobl	bone
42	chr4:88113000-88114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:88113000-88114000	Enhancers	NHDF-Ad	bronchial
44	chr4:88113000-88115400	Strong transcription	Monocytes-CD14+_RO01746	blood

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