Variant report

Variant	rs13145898
Chromosome Location	chr4:88073178-88073179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87928676..87930653-chr4:88070538..88073339,2	K562	blood:
2	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10049549	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10050249	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12710836	1.00[CEU][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13105620	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13112444	0.85[GIH][hapmap]
rs13126252	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13134294	0.81[AMR][1000 genomes]
rs13134907	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13140294	0.81[AMR][1000 genomes]
rs13142380	0.85[GIH][hapmap]
rs13143182	0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs13435811	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17704256	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs17755195	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs193166	1.00[YRI][hapmap]
rs2035404	0.95[EUR][1000 genomes]
rs2054611	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390247	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28523549	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28621526	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28655413	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28668976	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28773027	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34128785	0.81[AMR][1000 genomes]
rs34242006	0.81[AMR][1000 genomes]
rs34422965	0.81[AMR][1000 genomes]
rs34589806	0.81[AMR][1000 genomes]
rs35133616	0.81[AMR][1000 genomes]
rs35534149	0.88[AMR][1000 genomes]
rs35542725	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36123985	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71607405	0.92[AMR][1000 genomes]
rs71607407	0.88[AMR][1000 genomes]
rs71607410	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9999554	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv879526	chr4:88062611-88087832	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13145898	KLHL8	cis	multi-tissue	Pritchard
rs13145898	MAPKAPK5	trans	lymphoblastoid	RTeQTL
rs13145898	HELQ	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88053600-88082000	Weak transcription	HSMM	muscle
2	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:88056600-88090600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:88057800-88073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:88057800-88074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:88058200-88082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:88058200-88109000	Weak transcription	Lung	lung
8	chr4:88058400-88074000	Weak transcription	Hela-S3	cervix
9	chr4:88058600-88084200	Weak transcription	Brain Anterior Caudate	brain
10	chr4:88058800-88073400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:88058800-88082400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:88058800-88088400	Weak transcription	Thymus	Thymus
13	chr4:88058800-88092200	Weak transcription	Colonic Mucosa	Colon
14	chr4:88059000-88086600	Weak transcription	A549	lung
15	chr4:88059200-88073600	Weak transcription	Pancreas	Pancrea
16	chr4:88059200-88087800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:88059200-88088000	Weak transcription	Fetal Stomach	stomach
18	chr4:88059200-88100800	Weak transcription	Osteobl	bone
19	chr4:88061200-88082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:88061400-88084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:88062600-88084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:88063000-88090800	Weak transcription	Left Ventricle	heart
24	chr4:88063000-88090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:88063200-88088400	Weak transcription	Ovary	ovary
26	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
27	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:88063800-88073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:88063800-88083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:88063800-88087800	Weak transcription	Primary T cells from cord blood	blood
31	chr4:88064200-88082800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:88064200-88090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:88064400-88084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
37	chr4:88065600-88088200	Weak transcription	GM12878-XiMat	blood
38	chr4:88066000-88081200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:88066200-88101000	Weak transcription	HMEC	breast
41	chr4:88066600-88082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:88066600-88082800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:88066600-88084000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:88066600-88089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:88066800-88074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:88066800-88084200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:88066800-88084400	Weak transcription	K562	blood
48	chr4:88066800-88084600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:88066800-88093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:88067000-88080600	Weak transcription	Monocytes-CD14+_RO01746	blood

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