Variant report

Variant	rs3814743
Chromosome Location	chr11:65810869-65810870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65788316..65790076-chr11:65810042..65812775,2	K562	blood:
2	chr11:65806019..65808419-chr11:65809949..65812700,3	MCF-7	breast:
3	chr11:65810731..65812835-chr11:66047568..66050313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174871	Chromatin interaction
ENSG00000175294	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11227393	1.00[EUR][1000 genomes]
rs11227396	1.00[EUR][1000 genomes]
rs12576868	1.00[EUR][1000 genomes]
rs12577589	1.00[EUR][1000 genomes]
rs2298446	1.00[EUR][1000 genomes]
rs35188698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244723	1.00[EUR][1000 genomes]
rs9787882	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv897770	chr11:65803750-65824472	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv3402312	chr11:65808901-65811949	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
2	chr11:65790400-65812600	Weak transcription	Right Atrium	heart
3	chr11:65790400-65818600	Weak transcription	HSMM	muscle
4	chr11:65803800-65812400	Weak transcription	Pancreas	Pancrea
5	chr11:65805000-65815800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:65806800-65811800	Strong transcription	Fetal Brain Female	brain
7	chr11:65807400-65812400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:65808200-65812400	Weak transcription	Adipose Nuclei	Adipose
9	chr11:65808400-65811600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:65808400-65811800	Strong transcription	Brain Germinal Matrix	brain
11	chr11:65808400-65812000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:65808600-65812400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65808800-65811400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:65808800-65812400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:65809000-65811000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:65809000-65812200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:65809000-65812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:65809400-65811000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:65809400-65811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:65809400-65812400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:65809600-65812400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:65809800-65812600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:65809800-65812800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:65809800-65815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:65810000-65811000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:65810000-65811400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65810000-65811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:65810000-65811600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:65810000-65812600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:65810200-65813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:65810200-65813000	Weak transcription	Right Ventricle	heart
32	chr11:65810400-65812200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:65810600-65812200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:65810800-65811200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived

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