Variant report

Variant	rs10793067
Chromosome Location	chr11:73629469-73629470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10793068	0.87[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs10793069	0.87[CHB][hapmap]
rs10898946	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1095399	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235876	0.92[ASW][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs11235960	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1632159	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1670537	0.92[ASW][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs1670540	0.81[ASN][1000 genomes]
rs1670543	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1670551	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1670557	0.92[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]
rs1670559	0.81[ASN][1000 genomes]
rs1670562	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1670564	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1670565	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1670569	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1723843	0.92[ASW][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs1723848	0.92[ASW][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs1792154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792156	0.92[ASW][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs1792160	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1792165	0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[LWK][hapmap]
rs1792170	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792174	0.92[ASW][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs1792183	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1792184	0.81[ASN][1000 genomes]
rs1792193	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs1792198	1.00[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2140893	0.92[ASW][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs2444601	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2511272	0.81[ASN][1000 genomes]
rs2515093	0.81[ASN][1000 genomes]
rs612914	0.90[CHB][hapmap];0.80[EUR][1000 genomes]
rs634771	0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap]
rs653263	0.90[CHB][hapmap];0.81[TSI][hapmap]
rs7934784	0.83[ASN][1000 genomes]
rs868667	0.92[ASW][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10793067	PAAF1	cis	Lymphoblastoid	GTEx
rs10793067	PAAF1	cis	lymphoblastoid	seeQTL
rs10793067	MRPL48	cis	lymphoblastoid	seeQTL
rs10793067	MRPL48	cis	multi-tissue	Pritchard
rs10793067	MRPL48	cis	cerebellum	SCAN
rs10793067	MOGAT2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
3	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
4	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
6	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:73606600-73630000	Weak transcription	A549	lung
9	chr11:73606800-73638200	Weak transcription	NHLF	lung
10	chr11:73611600-73630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:73613000-73640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:73614400-73630000	Weak transcription	Hela-S3	cervix
13	chr11:73615400-73640800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:73615800-73633400	Strong transcription	Primary T cells from cord blood	blood
15	chr11:73615800-73633600	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:73615800-73641400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:73616000-73633400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:73618400-73641600	Strong transcription	Placenta	Placenta
21	chr11:73618800-73629600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:73618800-73629800	Weak transcription	Fetal Heart	heart
23	chr11:73618800-73630000	Weak transcription	Pancreas	Pancrea
24	chr11:73618800-73635200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:73618800-73638800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:73619200-73636800	Strong transcription	Fetal Thymus	thymus
27	chr11:73619600-73633200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:73619600-73639800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:73620200-73631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:73620200-73631000	Strong transcription	Ovary	ovary
31	chr11:73620200-73631200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:73620200-73631200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:73620200-73632000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:73620200-73633000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:73620200-73633200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:73620200-73633400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:73620200-73633400	Strong transcription	GM12878-XiMat	blood
38	chr11:73620200-73633600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:73620200-73634200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:73620200-73640800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:73620200-73641400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:73620400-73630800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:73620400-73631000	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:73620400-73631200	Strong transcription	Adipose Nuclei	Adipose
45	chr11:73620400-73631200	Strong transcription	Fetal Brain Female	brain
46	chr11:73620400-73631200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:73620400-73631400	Strong transcription	Primary B cells from cord blood	blood
48	chr11:73620400-73633000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:73620400-73633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:73620400-73641000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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