Variant report

Variant	rs73789235
Chromosome Location	chr5:112216471-112216472
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112216464-112216775	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:112214521..112217440-chr5:112219552..112222525,2	MCF-7	breast:
2	chr5:112210185..112212366-chr5:112214528..112217503,2	K562	blood:
3	chr5:112195269..112200241-chr5:112214225..112218967,7	MCF-7	breast:
4	chr5:112213045..112215334-chr5:112215360..112217961,2	K562	blood:

Variant related genes	Relation type
XBP1P1	TF binding region
ENSG00000249947	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1109248	1.00[AMR][1000 genomes]
rs55948553	0.84[AFR][1000 genomes]
rs56875042	1.00[AMR][1000 genomes]
rs58529934	1.00[AMR][1000 genomes]
rs59028501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59063648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789242	0.84[AFR][1000 genomes]
rs73791450	1.00[AMR][1000 genomes]
rs73791453	1.00[AMR][1000 genomes]
rs73791454	1.00[AMR][1000 genomes]
rs73791479	1.00[AMR][1000 genomes]
rs73791489	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	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112202800-112217800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:112203400-112218200	Weak transcription	Colonic Mucosa	Colon
6	chr5:112206200-112218400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
8	chr5:112206600-112217200	Weak transcription	Right Ventricle	heart
9	chr5:112206600-112219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112206600-112219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:112206800-112217000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:112206800-112217200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:112206800-112217200	Weak transcription	Gastric	stomach
14	chr5:112206800-112220800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:112206800-112220800	Weak transcription	Ovary	ovary
16	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:112209800-112218600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:112210600-112218200	Weak transcription	Psoas Muscle	Psoas
24	chr5:112210600-112225000	Strong transcription	Liver	Liver
25	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:112211200-112216600	Strong transcription	NHDF-Ad	bronchial
28	chr5:112211200-112222600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:112211400-112216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:112211600-112217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:112211800-112223400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:112212400-112220200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:112212800-112216600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:112213000-112223000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:112213000-112223200	Strong transcription	Fetal Lung	lung
43	chr5:112213000-112223200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:112213200-112222800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:112213200-112223200	Strong transcription	Brain Germinal Matrix	brain
47	chr5:112213200-112223400	Strong transcription	Adipose Nuclei	Adipose
48	chr5:112213200-112223400	Strong transcription	Fetal Brain Female	brain
49	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112213400-112217200	Strong transcription	Rectal Smooth Muscle	rectum

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