Variant report

Variant	rs4752798
Chromosome Location	chr11:47886364-47886365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10458915	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1056387	0.83[ASN][1000 genomes]
rs10742817	0.83[ASN][1000 genomes]
rs10742820	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10742824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769285	0.83[ASN][1000 genomes]
rs10769299	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769300	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838736	0.81[ASN][1000 genomes]
rs10838739	0.83[ASN][1000 genomes]
rs10838740	0.85[ASN][1000 genomes]
rs10838746	0.83[ASN][1000 genomes]
rs10838751	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838758	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838759	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838760	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838763	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838766	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838767	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838768	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838769	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838771	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838773	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838774	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838775	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838776	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838777	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838782	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838784	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838786	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039329	0.84[ASN][1000 genomes]
rs11039337	0.83[ASN][1000 genomes]
rs11039345	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039354	0.81[EUR][1000 genomes]
rs11039373	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039376	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039377	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039379	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039392	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11039401	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039402	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039414	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11039415	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039419	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039429	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039431	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039432	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039434	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225854	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226431	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286721	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12360643	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12362318	0.83[ASN][1000 genomes]
rs12366244	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12421563	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12576933	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785949	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1471712	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1563820	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1563821	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125838	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2170815	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290851	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28617307	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2869534	0.84[EUR][1000 genomes]
rs2869541	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2904127	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3758655	0.83[ASN][1000 genomes]
rs3816605	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886262	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4539273	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4543938	0.81[ASN][1000 genomes]
rs4752792	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752796	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752858	0.84[ASN][1000 genomes]
rs4752860	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752865	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60833259	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61895760	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6485773	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485775	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485778	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485786	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485794	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7101597	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7102205	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7105791	0.83[ASN][1000 genomes]
rs7107792	0.83[ASN][1000 genomes]
rs7107922	0.83[ASN][1000 genomes]
rs7108479	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7110300	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111509	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7111576	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7111606	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112248	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7114813	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115228	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7116320	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7116346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116970	0.83[ASN][1000 genomes]
rs7118747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121038	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7122182	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122217	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7123952	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124396	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7129237	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129797	0.83[ASN][1000 genomes]
rs754434	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925211	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929014	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929725	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932703	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7933184	0.83[ASN][1000 genomes]
rs7933896	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935521	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935528	0.81[ASN][1000 genomes]
rs7936948	0.83[ASN][1000 genomes]
rs7939420	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7941399	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7943213	0.83[ASN][1000 genomes]
rs7943464	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944084	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945312	0.81[ASN][1000 genomes]
rs7948468	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7950674	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9633830	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4752798	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:47880000-47886600	Weak transcription	HSMMtube	muscle
3	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:47883000-47886400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:47883000-47886600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:47883000-47887200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:47883200-47886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:47883200-47887000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:47883600-47886600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:47883800-47886600	Enhancers	Adipose Nuclei	Adipose
12	chr11:47884000-47886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47884000-47887400	Enhancers	Hela-S3	cervix
14	chr11:47884200-47886600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:47884400-47886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:47884400-47886600	Enhancers	HSMM	muscle
17	chr11:47884600-47886800	Enhancers	NH-A	brain
18	chr11:47884800-47886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:47885200-47886400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr11:47885200-47886600	Enhancers	NHLF	lung
21	chr11:47885200-47887000	Enhancers	Osteobl	bone
22	chr11:47885400-47886400	Enhancers	Primary T cells from cord blood	blood
23	chr11:47885400-47887000	Flanking Active TSS	GM12878-XiMat	blood
24	chr11:47885400-47887000	Enhancers	K562	blood
25	chr11:47885600-47886400	Enhancers	Primary B cells from cord blood	blood
26	chr11:47885600-47886600	Enhancers	Ovary	ovary
27	chr11:47885800-47886600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:47886000-47886600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:47886000-47886800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:47886000-47886800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:47886000-47886800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:47886000-47886800	Flanking Active TSS	A549	lung
33	chr11:47886000-47887000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47886000-47888200	Weak transcription	Placenta	Placenta
35	chr11:47886000-47891200	Weak transcription	Spleen	Spleen
36	chr11:47886000-47891600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:47886200-47886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:47886200-47886400	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:47886200-47886600	Enhancers	HUVEC	blood vessel
40	chr11:47886200-47887000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:47886200-47887200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:47886200-47887400	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:47886200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:47886200-47891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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