Variant report

Variant	rs12270098
Chromosome Location	chr11:47757747-47757748
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	chr11:47757421-47757778	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47661932..47663606-chr11:47755819..47758646,2	K562	blood:

Variant related genes	Relation type
FNBP4	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11039259	1.00[AMR][1000 genomes]
rs11039261	1.00[AMR][1000 genomes]
rs11039298	1.00[AMR][1000 genomes]
rs11039309	1.00[EUR][1000 genomes]
rs11039349	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039363	1.00[AMR][1000 genomes]
rs11039383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039388	1.00[AMR][1000 genomes]
rs12271179	1.00[AMR][1000 genomes]
rs12272214	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273959	0.90[AFR][1000 genomes]
rs12275286	1.00[AMR][1000 genomes]
rs12275750	0.82[AFR][1000 genomes]
rs12282406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284196	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286933	1.00[AMR][1000 genomes]
rs12287121	1.00[AMR][1000 genomes]
rs12290818	1.00[AMR][1000 genomes]
rs13377558	1.00[AFR][1000 genomes]
rs61978569	1.00[AMR][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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737200-47758200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47737800-47759200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:47737800-47767400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47737800-47776400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:47737800-47776600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:47737800-47776600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:47737800-47777200	Strong transcription	NH-A	brain
11	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
20	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
21	chr11:47738000-47763800	Strong transcription	NHDF-Ad	bronchial
22	chr11:47738000-47776200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:47738000-47776200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:47738000-47776400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:47738000-47776600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:47738200-47776200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:47738200-47776600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:47738200-47779000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:47738400-47776600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:47738600-47785800	Strong transcription	Dnd41	blood
37	chr11:47739800-47776800	Strong transcription	Thymus	Thymus
38	chr11:47740000-47758400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:47742800-47776400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:47742800-47776400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:47743000-47776400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:47743400-47758600	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:47743800-47776200	Strong transcription	Primary T cells from cord blood	blood
44	chr11:47744000-47759800	Strong transcription	GM12878-XiMat	blood
45	chr11:47746000-47777600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:47746200-47776200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:47746200-47776400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:47746200-47776800	Strong transcription	Left Ventricle	heart
49	chr11:47746200-47778200	Strong transcription	Osteobl	bone
50	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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