Variant report

Variant	rs534857018
Chromosome Location	chr5:112218288-112218289
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	chr5:112217968-112218835	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr5:112218244-112218414	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:112218206-112218324	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:112217858-112219262	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112195269..112200241-chr5:112214225..112218967,7	MCF-7	breast:
2	chr5:112213405..112216248-chr5:112216805..112218995,2	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv18181	chr5:112217824-112218717	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr5:112206200-112218400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
6	chr5:112206600-112219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:112206600-112219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112206800-112220800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112206800-112220800	Weak transcription	Ovary	ovary
10	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:112209800-112218600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112210600-112225000	Strong transcription	Liver	Liver
18	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:112211200-112222600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:112211800-112223400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:112212400-112220200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:112213000-112223000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:112213000-112223200	Strong transcription	Fetal Lung	lung
32	chr5:112213000-112223200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:112213200-112222800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr5:112213200-112223200	Strong transcription	Brain Germinal Matrix	brain
36	chr5:112213200-112223400	Strong transcription	Adipose Nuclei	Adipose
37	chr5:112213200-112223400	Strong transcription	Fetal Brain Female	brain
38	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:112213600-112223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:112213800-112219400	Strong transcription	Left Ventricle	heart
41	chr5:112213800-112225000	Strong transcription	Fetal Intestine Large	intestine
42	chr5:112214000-112223400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:112214000-112224400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:112214800-112218800	Weak transcription	Fetal Heart	heart
46	chr5:112214800-112220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:112214800-112220800	Weak transcription	Stomach Mucosa	stomach
48	chr5:112214800-112223400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:112214800-112223400	Strong transcription	Fetal Thymus	thymus
50	chr5:112214800-112226600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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