Variant report

Variant	rs9535284
Chromosome Location	chr13:50234796-50234797
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	chr13:50227490..50229830-chr13:50234207..50235813,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1061979	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139051	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969738	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146142	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34480126	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67155750	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67394151	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67881093	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71216551	0.93[EUR][1000 genomes]
rs7326633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329488	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991234	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526588	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9535285	0.90[EUR][1000 genomes]
rs9535286	0.90[EUR][1000 genomes]
rs9535289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535293	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9535294	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535295	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535298	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535301	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 target site	29 gene(s)	inside rSNPs	diseases
2	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9535284	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs9535284	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
3	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
4	chr13:50217800-50241000	Weak transcription	K562	blood
5	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:50222800-50236800	Weak transcription	Aorta	Aorta
9	chr13:50223600-50235200	Weak transcription	Pancreas	Pancrea
10	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel
11	chr13:50224400-50235200	Weak transcription	Right Ventricle	heart
12	chr13:50224400-50236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:50224600-50243000	Weak transcription	Brain Germinal Matrix	brain
14	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:50226200-50235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:50226400-50244000	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:50226800-50235400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr13:50226800-50241200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:50227000-50235200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:50227000-50240000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:50227000-50241200	Weak transcription	GM12878-XiMat	blood
22	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:50227800-50240000	Weak transcription	Left Ventricle	heart
24	chr13:50227800-50241000	Weak transcription	Fetal Brain Male	brain
25	chr13:50228400-50241200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:50228600-50242000	Weak transcription	HSMMtube	muscle
27	chr13:50228600-50244000	Weak transcription	Fetal Kidney	kidney
28	chr13:50229400-50237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:50229600-50239800	Weak transcription	Thymus	Thymus
30	chr13:50229800-50243400	Weak transcription	Small Intestine	intestine
31	chr13:50230000-50236800	Weak transcription	Fetal Heart	heart
32	chr13:50230000-50239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:50230000-50240000	Weak transcription	Colonic Mucosa	Colon
34	chr13:50230000-50241000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:50230200-50235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:50230200-50236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:50230200-50237000	Weak transcription	A549	lung
38	chr13:50230200-50237200	Weak transcription	Osteobl	bone
39	chr13:50230200-50241200	Weak transcription	HMEC	breast
40	chr13:50230200-50242000	Weak transcription	NHDF-Ad	bronchial
41	chr13:50230400-50239600	Weak transcription	HSMM	muscle
42	chr13:50230400-50243400	Strong transcription	Fetal Stomach	stomach
43	chr13:50230600-50235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:50230600-50238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:50230600-50239800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr13:50230600-50241200	Weak transcription	Fetal Brain Female	brain
47	chr13:50230800-50235200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:50231000-50237800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:50231000-50241000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:50231000-50246800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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