Variant report

Variant	rs2005192
Chromosome Location	chr11:86547920-86547921
allele	A/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	MAFK	chr11:86547915-86548016	HepG2	liver:	n/a	chr11:86547993-86548004 chr11:86547993-86548004 chr11:86547992-86548003

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM135-7	chr11:86547861-86548657	ENSG00000269895.1

Variant related genes	Relation type
OR7E13P	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10751141	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10898536	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10898539	0.85[ASN][1000 genomes]
rs10898540	0.85[ASN][1000 genomes]
rs10898541	0.81[ASN][1000 genomes]
rs10898542	0.85[ASN][1000 genomes]
rs11234827	0.97[ASN][1000 genomes]
rs11234832	0.83[ASN][1000 genomes]
rs11234833	0.83[ASN][1000 genomes]
rs11234834	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11602695	0.82[CHB][hapmap]
rs11822136	0.83[ASN][1000 genomes]
rs12283389	0.81[ASN][1000 genomes]
rs12283538	0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12290301	0.82[ASN][1000 genomes]
rs12365857	0.99[ASN][1000 genomes]
rs12420039	0.82[CHB][hapmap]
rs12798785	0.81[ASN][1000 genomes]
rs17819187	0.82[CHB][hapmap]
rs1939109	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1939111	0.82[CHB][hapmap]
rs1939113	0.82[CHB][hapmap]
rs1939114	0.82[CHB][hapmap]
rs1939116	0.87[CHB][hapmap]
rs2105586	0.99[ASN][1000 genomes]
rs2433433	0.82[CHB][hapmap]
rs2433434	0.82[CHB][hapmap]
rs2433436	0.81[CHB][hapmap]
rs2433438	0.82[CHB][hapmap]
rs2433439	0.82[CHB][hapmap]
rs2513018	0.81[CHB][hapmap]
rs2555537	0.91[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2555538	0.91[ASN][1000 genomes]
rs2555539	0.97[ASN][1000 genomes]
rs2555540	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555542	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2845684	0.99[ASN][1000 genomes]
rs2845685	0.99[ASN][1000 genomes]
rs2845689	0.99[ASN][1000 genomes]
rs2845690	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809048	0.82[CHB][hapmap]
rs4128368	0.81[CHB][hapmap]
rs4304806	0.82[CHB][hapmap]
rs4423210	0.82[CHB][hapmap]
rs4485132	0.82[CHB][hapmap]
rs4567492	0.84[ASN][1000 genomes]
rs4594022	0.85[ASN][1000 genomes]
rs61906681	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592317	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7104692	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7107731	0.82[ASN][1000 genomes]
rs7131625	0.82[CHB][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv975959	chr11:86534725-86568919	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1836220	chr11:86542005-86573310	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86520000-86549200	Weak transcription	Ovary	ovary
2	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:86530200-86549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:86530200-86549000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:86530200-86549000	Weak transcription	HMEC	breast
6	chr11:86530200-86550800	Weak transcription	HUVEC	blood vessel
7	chr11:86530400-86548600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:86530400-86549200	Weak transcription	Aorta	Aorta
9	chr11:86530400-86551000	Weak transcription	A549	lung
10	chr11:86530400-86551400	Weak transcription	Osteobl	bone
11	chr11:86531000-86549400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:86533000-86548600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:86534600-86549200	Weak transcription	Fetal Stomach	stomach
14	chr11:86534800-86550800	Weak transcription	HSMM	muscle
15	chr11:86537200-86580600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86541800-86548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:86542800-86555400	Weak transcription	Fetal Lung	lung
18	chr11:86543200-86582600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:86544200-86550200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:86544400-86548400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:86544400-86548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:86544400-86551400	Weak transcription	Left Ventricle	heart
23	chr11:86545000-86548800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:86545800-86550400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:86546600-86550000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86547600-86548600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:86547800-86550600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:86547800-86551400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:86547800-86562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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