Variant report

Variant	rs73346054
Chromosome Location	chr14:81443048-81443049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81437706..81439686-chr14:81442892..81444755,2	MCF-7	breast:
2	chr14:81442891..81446024-chr14:81447547..81451295,3	K562	blood:

Variant related genes	Relation type
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs58040173	1.00[AMR][1000 genomes]
rs58133007	1.00[AMR][1000 genomes]
rs58679489	1.00[AMR][1000 genomes]
rs60977678	1.00[AMR][1000 genomes]
rs73334006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338189	1.00[AMR][1000 genomes]
rs73338199	1.00[AMR][1000 genomes]
rs73338226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338235	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338237	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338251	1.00[AMR][1000 genomes]
rs73340105	1.00[AMR][1000 genomes]
rs73340175	1.00[AMR][1000 genomes]
rs73342195	1.00[AMR][1000 genomes]
rs73342245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342273	1.00[AMR][1000 genomes]
rs73342549	1.00[AMR][1000 genomes]
rs73342554	1.00[AMR][1000 genomes]
rs73344031	1.00[AMR][1000 genomes]
rs73344062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347926	1.00[AMR][1000 genomes]
rs73347935	1.00[AMR][1000 genomes]
rs73347938	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347973	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349964	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81440000-81443200	Enhancers	Adipose Nuclei	Adipose
2	chr14:81440600-81443800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:81440600-81444200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:81440600-81444600	Weak transcription	Primary T cells from cord blood	blood
5	chr14:81440800-81444600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:81441000-81443800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81441400-81444400	Enhancers	Fetal Thymus	thymus
8	chr14:81441800-81444000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:81442000-81443600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:81442000-81444200	Weak transcription	Fetal Brain Male	brain
11	chr14:81442000-81446000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:81442200-81444400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:81442200-81444800	Weak transcription	Brain Anterior Caudate	brain
14	chr14:81442200-81446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:81442600-81443400	Genic enhancers	Thymus	Thymus
17	chr14:81442600-81443600	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr14:81442800-81444800	Enhancers	Placenta	Placenta
19	chr14:81443000-81443400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:81443000-81444000	Enhancers	Rectal Mucosa Donor 31	rectum

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