Variant report

Variant	rs10838731
Chromosome Location	chr11:47607135-47607136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47606406-47607164	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:47606467-47608044	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:47606640-47607139	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:47607072-47607760	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47606438-47608201	K562	blood:	n/a	n/a
6	POLR2A	chr11:47606314-47607175	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47587234..47588763-chr11:47607056..47608888,2	MCF-7	breast:

Variant related genes	Relation type
FAM180B	TF binding region
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10769282	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10838725	0.88[AMR][1000 genomes]
rs10838726	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838732	0.85[ASN][1000 genomes]
rs11039284	0.90[AFR][1000 genomes]
rs11039290	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039297	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039332	0.86[AMR][1000 genomes]
rs12225051	0.83[AMR][1000 genomes]
rs12226590	0.82[ASN][1000 genomes]
rs12287076	0.92[EUR][1000 genomes]
rs12365079	0.86[AMR][1000 genomes]
rs2280231	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6485758	0.89[AMR][1000 genomes]
rs6485763	0.81[ASN][1000 genomes]
rs7120548	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126378	0.86[ASN][1000 genomes]
rs71475921	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7933019	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10838731	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	chr11:47601400-47611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47601800-47607200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
8	chr11:47602200-47607200	Strong transcription	Fetal Thymus	thymus
9	chr11:47602200-47607400	Strong transcription	Lung	lung
10	chr11:47602200-47607600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:47602200-47607600	Strong transcription	Fetal Intestine Large	intestine
12	chr11:47602200-47607800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:47602200-47607800	Strong transcription	Primary T cells from cord blood	blood
14	chr11:47602200-47608200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:47602200-47608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:47602200-47608800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:47602200-47610400	Strong transcription	Fetal Brain Female	brain
18	chr11:47602400-47607200	Strong transcription	Brain Hippocampus Middle	brain
19	chr11:47602400-47607600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:47602400-47607600	Strong transcription	Brain Anterior Caudate	brain
21	chr11:47602400-47607600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:47602400-47607600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:47602400-47607800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:47602400-47608000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:47602400-47608200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47602400-47608200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:47602400-47608400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:47602400-47609000	Strong transcription	Fetal Intestine Small	intestine
29	chr11:47602400-47609200	Strong transcription	Primary B cells from cord blood	blood
30	chr11:47602400-47609800	Strong transcription	Fetal Stomach	stomach
31	chr11:47602600-47607200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:47602600-47607600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:47602600-47607600	Weak transcription	Right Atrium	heart
34	chr11:47602600-47607600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:47602600-47607800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:47602600-47608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:47602600-47608800	Strong transcription	Thymus	Thymus
38	chr11:47602600-47610000	Strong transcription	Brain Germinal Matrix	brain
39	chr11:47603000-47608600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:47603800-47612400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:47604000-47608800	Weak transcription	Stomach Mucosa	stomach
42	chr11:47604000-47612000	Weak transcription	Small Intestine	intestine
43	chr11:47604400-47610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:47605000-47611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:47605600-47607800	Strong transcription	Spleen	Spleen
46	chr11:47605600-47610800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:47605800-47608200	Weak transcription	NHDF-Ad	bronchial
48	chr11:47605800-47608400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:47605800-47608800	Weak transcription	Fetal Brain Male	brain
50	chr11:47605800-47610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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