Variant report

Variant	rs72622468
Chromosome Location	chr14:56222626-56222627
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	chr14:56221789..56224702-chr14:56769776..56771612,2	K562	blood:
2	chr14:56220561..56223458-chr14:56223829..56226647,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10137782	0.84[AMR][1000 genomes]
rs10150228	0.84[AMR][1000 genomes]
rs17128790	0.95[AMR][1000 genomes]
rs17128802	0.82[AMR][1000 genomes]
rs17128804	0.82[AMR][1000 genomes]
rs2342591	0.91[AMR][1000 genomes]
rs58698215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60409861	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72622467	0.91[AMR][1000 genomes]
rs72622469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72622470	0.88[AMR][1000 genomes]
rs72622471	0.86[AMR][1000 genomes]
rs72622472	0.84[AMR][1000 genomes]
rs7494275	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901967	chr14:56183127-56252062	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901968	chr14:56183127-56256651	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901972	chr14:56185501-56256651	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901973	chr14:56185908-56252062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901974	chr14:56192577-56252062	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56219600-56223600	Enhancers	Fetal Thymus	thymus
2	chr14:56219800-56223200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:56219800-56224600	Weak transcription	Fetal Intestine Large	intestine
4	chr14:56219800-56225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56219800-56225000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56220200-56222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:56220200-56222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:56220200-56223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:56220200-56223000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:56220200-56223000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:56220200-56223200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:56220200-56223200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:56220200-56224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:56220400-56223200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:56220400-56223200	Weak transcription	Fetal Intestine Small	intestine
16	chr14:56221600-56223600	Weak transcription	Stomach Mucosa	stomach
17	chr14:56221600-56225600	Weak transcription	A549	lung
18	chr14:56221600-56228400	Weak transcription	Aorta	Aorta
19	chr14:56222600-56222800	Enhancers	Pancreas	Pancrea
20	chr14:56222600-56223400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:56222600-56223600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:56222600-56223600	Enhancers	Thymus	Thymus
23	chr14:56222600-56223600	Enhancers	Dnd41	blood
24	chr14:56222600-56223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:56222600-56224000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:56222600-56226200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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