Variant report

Variant	rs56407833
Chromosome Location	chr5:112212751-112212752
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
2	chr5:112197996..112200677-chr5:112212037..112214219,2	K562	blood:
3	chr5:112200124..112202418-chr5:112211371..112213575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57043077	1.00[AFR][1000 genomes]
rs57112380	0.94[AFR][1000 genomes]
rs58217280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220049	0.82[AFR][1000 genomes]
rs73220063	0.89[AFR][1000 genomes]
rs73789233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv4960	chr5:112200199-112218299	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112198400-112220600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112199200-112213200	Weak transcription	Fetal Heart	heart
4	chr5:112199200-112213400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112199400-112215000	Weak transcription	Small Intestine	intestine
6	chr5:112199600-112214400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:112200600-112213800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:112202800-112217800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:112203400-112213000	Weak transcription	Fetal Lung	lung
11	chr5:112203400-112218200	Weak transcription	Colonic Mucosa	Colon
12	chr5:112203600-112214400	Weak transcription	Stomach Mucosa	stomach
13	chr5:112204000-112213800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:112205000-112214600	Weak transcription	Fetal Kidney	kidney
15	chr5:112205200-112212800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:112205400-112213600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:112205600-112212800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:112206200-112218400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112206400-112213800	Weak transcription	HUVEC	blood vessel
20	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
21	chr5:112206600-112213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:112206600-112213200	Weak transcription	Brain Germinal Matrix	brain
23	chr5:112206600-112213200	Weak transcription	Fetal Brain Female	brain
24	chr5:112206600-112213400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:112206600-112214000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:112206600-112214200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:112206600-112214400	Weak transcription	Hela-S3	cervix
28	chr5:112206600-112215400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:112206600-112215800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:112206600-112216400	Weak transcription	Aorta	Aorta
31	chr5:112206600-112217200	Weak transcription	Right Ventricle	heart
32	chr5:112206600-112219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:112206600-112219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:112206800-112212800	Weak transcription	NHLF	lung
35	chr5:112206800-112213000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:112206800-112213000	Weak transcription	NHEK	skin
37	chr5:112206800-112213200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:112206800-112213200	Weak transcription	Adipose Nuclei	Adipose
39	chr5:112206800-112213200	Weak transcription	Brain Anterior Caudate	brain
40	chr5:112206800-112214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:112206800-112215400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:112206800-112215800	Weak transcription	Pancreas	Pancrea
43	chr5:112206800-112215800	Weak transcription	Spleen	Spleen
44	chr5:112206800-112217000	Weak transcription	Brain Angular Gyrus	brain
45	chr5:112206800-112217200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:112206800-112217200	Weak transcription	Gastric	stomach
47	chr5:112206800-112220800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:112206800-112220800	Weak transcription	Ovary	ovary
49	chr5:112207000-112215800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:112207000-112216000	Weak transcription	Colon Smooth Muscle	Colon

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