Variant report

Variant	rs13428933
Chromosome Location	chr2:32358864-32358865
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10084280	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10084410	1.00[ASN][1000 genomes]
rs10169478	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10189895	1.00[ASN][1000 genomes]
rs10199511	1.00[GIH][hapmap]
rs12712326	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425083	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429391	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs13431616	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17011716	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs17011828	1.00[ASN][1000 genomes]
rs17011863	1.00[GIH][hapmap]
rs28713298	0.82[AFR][1000 genomes]
rs62142082	1.00[ASN][1000 genomes]
rs62142083	1.00[ASN][1000 genomes]
rs62142084	1.00[ASN][1000 genomes]
rs62142085	1.00[ASN][1000 genomes]
rs62142088	1.00[ASN][1000 genomes]
rs62142093	1.00[ASN][1000 genomes]
rs62142107	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7583597	1.00[ASN][1000 genomes]
rs7596656	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13428933	PLB1	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:32297600-32360600	Weak transcription	Osteobl	bone
3	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
4	chr2:32313200-32360600	Weak transcription	NH-A	brain
5	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
7	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
8	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:32331600-32390200	Weak transcription	Gastric	stomach
10	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
11	chr2:32331800-32360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:32332200-32361400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:32332200-32362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:32340000-32360800	Weak transcription	Hela-S3	cervix
19	chr2:32342200-32372400	Weak transcription	Esophagus	oesophagus
20	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
21	chr2:32344200-32389600	Weak transcription	HMEC	breast
22	chr2:32344800-32360600	Weak transcription	NHEK	skin
23	chr2:32344800-32368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:32348400-32359200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:32349200-32369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:32350400-32359800	Strong transcription	Fetal Stomach	stomach
27	chr2:32350400-32360000	Strong transcription	Fetal Intestine Small	intestine
28	chr2:32351400-32359800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:32351800-32359800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:32352200-32374600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:32352600-32360600	Weak transcription	NHLF	lung
32	chr2:32352600-32369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:32353400-32360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:32353600-32359000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:32354000-32369400	Weak transcription	GM12878-XiMat	blood
36	chr2:32354600-32362200	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:32354600-32362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:32354800-32360600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:32354800-32360600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:32354800-32361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:32354800-32361400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:32354800-32362000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:32354800-32362200	Weak transcription	Fetal Kidney	kidney
45	chr2:32354800-32362200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:32354800-32362800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:32354800-32363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:32355000-32362600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain

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