Variant report

Variant	rs56833355
Chromosome Location	chr5:89768324-89768325
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:89768167-89768347	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89764343..89768380-chr5:89768675..89771583,10	MCF-7	breast:
2	chr5:89702524..89708084-chr5:89764247..89773389,22	K562	blood:
3	chr5:89767818..89772796-chr5:89823286..89827702,11	MCF-7	breast:
4	chr5:89766469..89774126-chr5:89823341..89829105,11	K562	blood:
5	chr5:89701553..89708894-chr5:89768084..89771807,14	K562	blood:
6	chr5:89703543..89706963-chr5:89767513..89771420,6	MCF-7	breast:

No data

Variant related genes	Relation type
POLR3G	TF binding region
ENSG00000153140	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58073987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73188475	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73190451	1.00[EUR][1000 genomes]
rs7700312	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv518131	chr5:89748142-89781594	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv882364	chr5:89748142-89808531	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89734600-89769000	Weak transcription	Pancreas	Pancrea
2	chr5:89736400-89768400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:89744400-89768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:89747400-89768600	Weak transcription	NHDF-Ad	bronchial
5	chr5:89748000-89768400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:89748400-89768600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:89749200-89768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:89749200-89768800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:89749200-89768800	Weak transcription	Ovary	ovary
10	chr5:89749200-89769000	Weak transcription	Left Ventricle	heart
11	chr5:89749400-89768600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:89749800-89768600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:89750200-89768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:89750800-89768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:89751200-89769000	Weak transcription	Spleen	Spleen
16	chr5:89752000-89769200	Weak transcription	Small Intestine	intestine
17	chr5:89752200-89768400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:89752200-89768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:89752800-89768600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:89753200-89768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:89753800-89768400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:89753800-89768600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:89755400-89769000	Weak transcription	HSMM	muscle
24	chr5:89755600-89768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:89755600-89768600	Weak transcription	Primary B cells from cord blood	blood
26	chr5:89757400-89768800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:89758000-89769200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:89758600-89768400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:89759200-89768800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:89759200-89768800	Weak transcription	Lung	lung
31	chr5:89760400-89768800	Weak transcription	Fetal Stomach	stomach
32	chr5:89761800-89768400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:89762000-89768800	Weak transcription	Fetal Kidney	kidney
34	chr5:89764200-89768600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:89764200-89768800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:89765200-89768600	Weak transcription	Fetal Thymus	thymus
37	chr5:89765400-89768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:89766000-89768400	Weak transcription	A549	lung
39	chr5:89766000-89768800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:89766200-89768400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:89766400-89768600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:89766400-89769000	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:89766600-89768600	Enhancers	Dnd41	blood
44	chr5:89766800-89768400	Weak transcription	Fetal Brain Male	brain
45	chr5:89767000-89768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:89767000-89768600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:89767000-89769000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr5:89767200-89768400	Enhancers	HepG2	liver
49	chr5:89767200-89768800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr5:89767200-89769000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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