Variant report

Variant	rs10838751
Chromosome Location	chr11:47744394-47744395
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47743554..47745140-chr11:47745644..47747352,2	K562	blood:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10458915	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1056387	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10742817	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10742820	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10742824	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769285	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769299	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769300	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838736	0.84[ASN][1000 genomes]
rs10838739	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838740	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838741	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838745	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838746	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838758	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838759	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838760	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838763	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838766	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838767	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838768	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838769	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838771	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838773	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838774	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838775	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838776	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838777	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10838782	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838784	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838786	0.82[EUR][1000 genomes]
rs11039329	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039336	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039337	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039345	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039354	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039373	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039376	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039377	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039379	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039392	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039401	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039402	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039414	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039415	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039419	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039429	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039431	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039432	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039434	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12225854	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12226431	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12286721	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12360643	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12362318	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12366244	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12421563	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576933	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12785949	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1563820	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1563821	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2046377	0.82[EUR][1000 genomes]
rs2125838	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2170815	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290851	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28617307	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2869534	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2869541	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2904127	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758655	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3816605	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3886262	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4539273	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4543938	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752792	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752796	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752798	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752858	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752860	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752865	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60833259	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61895760	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485763	0.81[ASN][1000 genomes]
rs6485773	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485775	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485778	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485786	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7101597	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102205	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105791	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7107792	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107922	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108479	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110300	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7111509	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111576	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111606	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7112248	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7114813	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7115228	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7116320	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116346	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7116970	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118747	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122182	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7122217	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7123952	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7124396	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7129237	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129797	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs754434	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925211	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7929014	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929725	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7932703	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7933184	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933896	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935344	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7935521	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7935528	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7936948	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7939420	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941399	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7943213	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943464	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7944084	0.80[EUR][1000 genomes]
rs7945312	0.84[ASN][1000 genomes]
rs7948468	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950674	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9633830	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10838751	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47736800-47752400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:47737200-47745200	Weak transcription	Aorta	Aorta
4	chr11:47737200-47745200	Weak transcription	Psoas Muscle	Psoas
5	chr11:47737200-47745600	Weak transcription	Stomach Mucosa	stomach
6	chr11:47737200-47747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:47737200-47748000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:47737200-47752200	Weak transcription	Right Atrium	heart
9	chr11:47737200-47758200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:47737600-47745600	Strong transcription	Osteobl	bone
12	chr11:47737600-47745800	Strong transcription	Hela-S3	cervix
13	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47737800-47744600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:47737800-47744600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:47737800-47745200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:47737800-47747000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:47737800-47757400	Strong transcription	Brain Germinal Matrix	brain
19	chr11:47737800-47759200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:47737800-47767400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:47737800-47776400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:47737800-47776600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:47737800-47776600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:47737800-47777200	Strong transcription	NH-A	brain
25	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
34	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
35	chr11:47738000-47744800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:47738000-47757200	Strong transcription	HSMM	muscle
37	chr11:47738000-47763800	Strong transcription	NHDF-Ad	bronchial
38	chr11:47738000-47776200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:47738000-47776200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:47738000-47776400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:47738000-47776600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:47738200-47744600	Strong transcription	Left Ventricle	heart
47	chr11:47738200-47745200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:47738200-47745600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47738200-47745600	Strong transcription	Adipose Nuclei	Adipose
50	chr11:47738200-47746400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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