Variant report

Variant	rs3892448
Chromosome Location	chr11:8014138-8014139
allele	A/G
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	chr11:8014025-8014349	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:8013838-8014569	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:8013894-8014461	K562	blood:	n/a	n/a
4	POLR2A	chr11:8013832-8014150	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:8013967-8014180	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8013781-8014538	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:8013953-8014188	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:8014117-8014150	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8011736..8013960-chr11:8014124..8015913,2	K562	blood:

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10839960	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10839962	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11041702	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1105984	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1132660	0.93[ASN][1000 genomes]
rs12278319	0.87[ASN][1000 genomes]
rs12294650	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3903047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076921	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559682	0.89[ASN][1000 genomes]
rs4758038	0.85[ASN][1000 genomes]
rs6578918	0.93[ASN][1000 genomes]
rs6578919	0.85[ASN][1000 genomes]
rs7125891	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7126561	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935597	0.97[ASN][1000 genomes]
rs7941107	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950331	0.95[ASN][1000 genomes]
rs922062	0.93[ASN][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv983088	chr11:8013451-8014557	Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3892448	EIF3F	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8009800-8014600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:8009800-8015800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:8010400-8015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:8010600-8014200	Weak transcription	Fetal Kidney	kidney
5	chr11:8010600-8020400	Strong transcription	NH-A	brain
6	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
10	chr11:8010800-8014200	Weak transcription	Fetal Heart	heart
11	chr11:8010800-8014200	Weak transcription	Psoas Muscle	Psoas
12	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
20	chr11:8011000-8016000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:8011000-8016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:8011000-8020200	Strong transcription	Hela-S3	cervix
23	chr11:8011000-8020200	Strong transcription	K562	blood
24	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
25	chr11:8011200-8016000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:8011200-8016400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:8011200-8020200	Strong transcription	HepG2	liver
28	chr11:8011200-8022800	Strong transcription	HSMM	muscle
29	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
30	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:8011400-8022200	Strong transcription	HMEC	breast
34	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:8011800-8014400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:8011800-8016000	Strong transcription	HUVEC	blood vessel
37	chr11:8011800-8020000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:8011800-8022000	Strong transcription	Osteobl	bone
42	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:8012200-8019800	Strong transcription	Brain Hippocampus Middle	brain
45	chr11:8012200-8022000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:8012400-8020600	Strong transcription	Dnd41	blood
47	chr11:8012600-8017600	Strong transcription	Fetal Intestine Small	intestine
48	chr11:8012800-8017800	Strong transcription	Esophagus	oesophagus
49	chr11:8012800-8019400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr11:8012800-8019600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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