Variant report

Variant	rs527617061
Chromosome Location	chr5:112296133-112296134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112295383..112297610-chr5:112302677..112305586,2	K562	blood:
2	chr5:112292348..112294065-chr5:112295595..112297511,2	MCF-7	breast:
3	chr5:112292808..112297954-chr5:112311731..112314309,4	MCF-7	breast:
4	chr5:112294258..112297172-chr5:112310787..112314038,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv823183	chr5:112295843-112296301	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112291600-112297600	Enhancers	HepG2	liver
2	chr5:112293200-112296400	Enhancers	Stomach Smooth Muscle	stomach
3	chr5:112293200-112296400	Enhancers	HSMMtube	muscle
4	chr5:112293200-112296400	Enhancers	HUVEC	blood vessel
5	chr5:112293200-112297000	Enhancers	NHDF-Ad	bronchial
6	chr5:112293200-112297000	Enhancers	NHLF	lung
7	chr5:112293400-112297200	Enhancers	Fetal Muscle Leg	muscle
8	chr5:112293400-112297200	Enhancers	Fetal Stomach	stomach
9	chr5:112293600-112296400	Enhancers	HSMM	muscle
10	chr5:112293800-112297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:112293800-112297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:112293800-112297200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:112293800-112297200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:112293800-112297600	Enhancers	K562	blood
15	chr5:112293800-112297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
17	chr5:112294200-112296800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:112294400-112298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:112294600-112296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:112294800-112296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:112294800-112297000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:112294800-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart
25	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:112295000-112296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:112295000-112296200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:112295000-112296400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:112295000-112296800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:112295000-112297000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:112295000-112297200	Enhancers	Psoas Muscle	Psoas
32	chr5:112295200-112296200	Enhancers	Fetal Muscle Trunk	muscle
33	chr5:112295200-112297000	Enhancers	Osteobl	bone
34	chr5:112295200-112297200	Enhancers	Brain Germinal Matrix	brain
35	chr5:112295200-112297200	Enhancers	NH-A	brain
36	chr5:112295200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:112295200-112299000	Weak transcription	Adipose Nuclei	Adipose
38	chr5:112295200-112299600	Enhancers	GM12878-XiMat	blood
39	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:112295600-112296200	Flanking Active TSS	A549	lung
41	chr5:112295600-112296200	Enhancers	NHEK	skin
42	chr5:112295600-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:112295800-112296800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:112295800-112296800	Enhancers	Hela-S3	cervix
45	chr5:112295800-112297200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:112295800-112297200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr5:112295800-112297200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:112295800-112299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:112295800-112299000	Weak transcription	Placenta	Placenta
50	chr5:112296000-112299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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