Variant report

Variant	rs533744752
Chromosome Location	chr5:112256957-112256958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
2	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:
3	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
4	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
5	chr5:112255746..112257849-chr5:112312359..112314246,3	MCF-7	breast:
6	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
7	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
8	chr16:81069322..81070029-chr5:112256640..112257405,2	Hela-S3	cervix:
9	chr5:111496112..111498947-chr5:112256676..112259616,2	K562	blood:
10	chr5:112132025..112134986-chr5:112254619..112257174,2	K562	blood:
11	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260213	Chromatin interaction
ENSG00000212643	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000272869	Chromatin interaction
ENSG00000224032	Chromatin interaction
ENSG00000238363	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3393782	chr5:112256103-112258601	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 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	chr5:112255400-112258400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:112255600-112258200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112256000-112257000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:112256000-112257000	Flanking Active TSS	Dnd41	blood
5	chr5:112256000-112257200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:112256000-112258200	Active TSS	NHDF-Ad	bronchial
7	chr5:112256200-112257000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:112256200-112257000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:112256200-112257000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112256200-112257200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr5:112256200-112257400	Active TSS	Fetal Brain Female	brain
12	chr5:112256200-112258000	Active TSS	NHLF	lung
13	chr5:112256200-112258200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:112256200-112258200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:112256200-112258200	Active TSS	GM12878-XiMat	blood
16	chr5:112256200-112258400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:112256200-112258600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:112256400-112257000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr5:112256400-112257000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr5:112256400-112257000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr5:112256400-112257000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr5:112256400-112257000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr5:112256400-112257000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:112256400-112257000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:112256400-112257000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr5:112256400-112257000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:112256400-112257000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:112256400-112257000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr5:112256400-112257000	Flanking Active TSS	Liver	Liver
30	chr5:112256400-112257000	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr5:112256400-112257000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr5:112256400-112257000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:112256400-112257000	Flanking Active TSS	K562	blood
34	chr5:112256400-112257200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr5:112256400-112257200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:112256400-112257200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:112256400-112257200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:112256400-112257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr5:112256400-112257400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:112256400-112257400	Active TSS	Brain Germinal Matrix	brain
41	chr5:112256400-112257800	Active TSS	Right Atrium	heart
42	chr5:112256400-112258000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:112256400-112258000	Active TSS	Colonic Mucosa	Colon
44	chr5:112256400-112258200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr5:112256400-112258200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:112256400-112258200	Active TSS	Placenta	Placenta
47	chr5:112256400-112258200	Active TSS	Gastric	stomach
48	chr5:112256400-112258200	Active TSS	Psoas Muscle	Psoas
49	chr5:112256400-112258200	Active TSS	HSMM	muscle
50	chr5:112256400-112258400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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