Variant report

Variant	rs2292045
Chromosome Location	chr11:8806709-8806710
allele	G/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	GATA3	chr11:8806707-8806882	SH-SY5Y	brain:	n/a	chr11:8806860-8806871
2	STAT3	chr11:8806533-8806848	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA2	chr11:8806452-8807341	SH-SY5Y	brain:	n/a	chr11:8806860-8806871 chr11:8807190-8807197 chr11:8807188-8807198 chr11:8807188-8807197 chr11:8807190-8807200
4	MAFK	chr11:8806687-8806924	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL27A-2	chr11:8806703-8807318	ENSG00000255159.1
2	lnc-RPL27A-2	chr11:8806703-8807009	ENSG00000255159.1

Variant related genes	Relation type
ENSG00000255159	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10160684	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10500705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10522860	0.81[AFR][1000 genomes]
rs10732515	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10734636	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10734637	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10743087	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs10743088	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10743089	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769952	0.87[EUR][1000 genomes]
rs10769953	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769954	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10769959	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1079452	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042058	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042066	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11603335	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2173999	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2292046	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2873297	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs34090393	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34524863	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34599227	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35098775	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35670750	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763920	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3812762	0.90[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs3842991	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3844099	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3844100	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3850933	0.87[EUR][1000 genomes]
rs3862352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4929910	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4929934	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4929936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6484008	0.86[CEU][hapmap]
rs6484425	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120004	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7934519	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7952335	0.85[CEU][hapmap]
rs905289	0.91[CEU][hapmap]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
3	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
4	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8796200-8808000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:8797400-8808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:8798200-8808200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:8798200-8808400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:8798600-8807400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:8799600-8807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:8799800-8808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:8800400-8808200	Weak transcription	Fetal Brain Male	brain
15	chr11:8800600-8807400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:8800600-8808200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:8800600-8811400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:8800800-8807000	Weak transcription	Gastric	stomach
19	chr11:8800800-8808600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
22	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:8801000-8808000	Weak transcription	Psoas Muscle	Psoas
24	chr11:8801000-8808400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:8801000-8808400	Weak transcription	HepG2	liver
26	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
27	chr11:8801200-8808400	Weak transcription	HMEC	breast
28	chr11:8801400-8808200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:8801600-8807000	Weak transcription	Lung	lung
30	chr11:8801600-8807000	Weak transcription	Stomach Mucosa	stomach
31	chr11:8801600-8808200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:8801600-8808200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
34	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
35	chr11:8801800-8807000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:8801800-8807000	Weak transcription	Small Intestine	intestine
37	chr11:8801800-8808400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:8801800-8808600	Weak transcription	NHEK	skin
39	chr11:8801800-8808800	Weak transcription	Placenta	Placenta
40	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:8802000-8806800	Weak transcription	Fetal Intestine Large	intestine
42	chr11:8802000-8806800	Weak transcription	HSMM	muscle
43	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:8802200-8808400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:8802200-8808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:8802200-8819200	Weak transcription	NH-A	brain
47	chr11:8802400-8808200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:8802400-8810600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:8802600-8806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:8802800-8806800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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