Variant report

Variant	rs56139314
Chromosome Location	chr1:45549334-45549335
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	chr1:45549284..45552082-chr1:45559378..45561289,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55737255	1.00[AMR][1000 genomes]
rs55871654	1.00[AMR][1000 genomes]
rs55996831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56229368	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56808652	1.00[AMR][1000 genomes]
rs56858212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57849329	1.00[AMR][1000 genomes]
rs57859990	1.00[AMR][1000 genomes]
rs58030745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58301056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59888189	1.00[AMR][1000 genomes]
rs60088568	0.87[AFR][1000 genomes]
rs60219606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61564383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070839	0.94[AFR][1000 genomes]
rs74070844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070854	1.00[AMR][1000 genomes]
rs74070855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070878	1.00[AMR][1000 genomes]
rs74070879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070891	1.00[AMR][1000 genomes]
rs74070896	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072212	1.00[AMR][1000 genomes]
rs74072213	1.00[AMR][1000 genomes]
rs74072217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]
rs74072224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74073419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:45525800-45558600	Weak transcription	HepG2	liver
2	chr1:45543400-45555400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:45543800-45562200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:45544400-45550000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:45544400-45560200	Weak transcription	Pancreas	Pancrea
6	chr1:45544600-45552000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:45545000-45558200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:45545800-45551400	Weak transcription	Fetal Stomach	stomach
9	chr1:45545800-45552000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:45546000-45549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:45546000-45550600	Weak transcription	Aorta	Aorta
12	chr1:45546000-45554800	Weak transcription	Ovary	ovary
13	chr1:45546600-45550400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:45546800-45555000	Weak transcription	Fetal Brain Female	brain
15	chr1:45547400-45549600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:45548000-45551600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45548400-45550800	Strong transcription	Brain Germinal Matrix	brain
18	chr1:45548600-45552000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:45548800-45550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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