Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
2	chr14:81685661..81688955-chr14:81919921..81922965,5	K562	blood:
3	chr14:81733496..81737456-chr14:81918664..81922273,4	MCF-7	breast:
4	chr14:81735295..81736524-chr14:81919204..81921189,25	MCF-7	breast:
5	chr14:81685661..81688388-chr14:81920051..81922947,2	K562	blood:
6	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
7	chr14:81684333..81688496-chr14:81916691..81923354,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11159500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12100504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100967	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12101219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12586522	1.00[AMR][1000 genomes]
rs12586556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12586611	1.00[AMR][1000 genomes]
rs12586817	1.00[AMR][1000 genomes]
rs12589111	1.00[AMR][1000 genomes]
rs17111807	1.00[AMR][1000 genomes]
rs17111825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17111839	0.91[ASN][1000 genomes]
rs17111840	0.91[ASN][1000 genomes]
rs17111848	0.91[ASN][1000 genomes]
rs17847450	1.00[EUR][1000 genomes]
rs2371601	1.00[AMR][1000 genomes]
rs28409508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3853422	1.00[AMR][1000 genomes]
rs58510940	1.00[EUR][1000 genomes]
rs58975890	0.91[ASN][1000 genomes]
rs731389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs731390	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81916200-81921200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:81916600-81925800	Weak transcription	Spleen	Spleen
3	chr14:81917000-81921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81917000-81931000	Weak transcription	Placenta	Placenta
5	chr14:81919400-81920800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:81919600-81921000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:81919600-81921600	Weak transcription	NHDF-Ad	bronchial
8	chr14:81919600-81921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81919600-81921800	Weak transcription	HSMMtube	muscle
10	chr14:81919600-81925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:81919600-81927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:81919600-81931000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:81919800-81925000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:81920000-81921000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:81920000-81921600	Weak transcription	HepG2	liver
16	chr14:81920000-81926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:81920600-81925600	Weak transcription	Brain Germinal Matrix	brain

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