Variant report

Variant	rs8008272
Chromosome Location	chr14:81920126-81920127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:81919200-81920171	A549	lung:	n/a	chr14:81919711-81919720
2	CTCF	chr14:81918934-81920143	SK-N-SH	brain:	n/a	chr14:81919711-81919720
3	RAD21	chr14:81919248-81920220	SK-N-SH	brain:	n/a	n/a
4	SMC3	chr14:81919247-81920234	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
2	chr14:81685661..81688955-chr14:81919921..81922965,5	K562	blood:
3	chr14:81791324..81793435-chr14:81918105..81920642,2	MCF-7	breast:
4	chr14:81733496..81737456-chr14:81918664..81922273,4	MCF-7	breast:
5	chr14:81735295..81736524-chr14:81919204..81921189,25	MCF-7	breast:
6	chr14:81685661..81688388-chr14:81920051..81922947,2	K562	blood:
7	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
8	chr14:81684333..81688496-chr14:81916691..81923354,12	MCF-7	breast:
9	chr14:81735897..81736529-chr14:81919200..81920174,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12889412	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12896506	0.89[AFR][1000 genomes]
rs3901125	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6574656	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:19 , 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	chr14:81917600-81920400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:81919000-81920600	Enhancers	Brain Germinal Matrix	brain
7	chr14:81919400-81920800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:81919600-81921000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:81919600-81921600	Weak transcription	NHDF-Ad	bronchial
10	chr14:81919600-81921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:81919600-81921800	Weak transcription	HSMMtube	muscle
12	chr14:81919600-81925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:81919600-81927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:81919600-81931000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:81919800-81920200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:81919800-81925000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:81920000-81921000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:81920000-81921600	Weak transcription	HepG2	liver
19	chr14:81920000-81926000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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