Variant report

Variant	rs368902830
Chromosome Location	chr5:112295925-112295926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112256942..112259777-chr5:112292490..112295980,4	MCF-7	breast:
2	chr5:112256312..112258572-chr5:112293343..112296094,6	MCF-7	breast:
3	chr5:112295383..112297610-chr5:112302677..112305586,2	K562	blood:
4	chr5:112293295..112296045-chr5:112298149..112301329,3	MCF-7	breast:
5	chr5:112292348..112294065-chr5:112295595..112297511,2	MCF-7	breast:
6	chr5:112292808..112297954-chr5:112311731..112314309,4	MCF-7	breast:
7	chr5:112294258..112297172-chr5:112310787..112314038,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction
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:57 , 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	chr5:112293800-112296000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:112293800-112296000	Enhancers	Stomach Mucosa	stomach
12	chr5:112293800-112296000	Enhancers	HMEC	breast
13	chr5:112293800-112297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:112293800-112297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112293800-112297200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:112293800-112297200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:112293800-112297600	Enhancers	K562	blood
18	chr5:112293800-112297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
20	chr5:112294200-112296800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:112294400-112298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:112294600-112296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:112294800-112296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:112294800-112297000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:112294800-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart
28	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:112295000-112296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112295000-112296200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:112295000-112296400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:112295000-112296800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:112295000-112297000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112295000-112297200	Enhancers	Psoas Muscle	Psoas
35	chr5:112295200-112296200	Enhancers	Fetal Muscle Trunk	muscle
36	chr5:112295200-112297000	Enhancers	Osteobl	bone
37	chr5:112295200-112297200	Enhancers	Brain Germinal Matrix	brain
38	chr5:112295200-112297200	Enhancers	NH-A	brain
39	chr5:112295200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:112295200-112299000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:112295200-112299600	Enhancers	GM12878-XiMat	blood
42	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:112295400-112296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112295400-112296000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:112295600-112296200	Flanking Active TSS	A549	lung
46	chr5:112295600-112296200	Enhancers	NHEK	skin
47	chr5:112295600-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:112295800-112296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:112295800-112296000	Enhancers	Fetal Brain Female	brain
50	chr5:112295800-112296000	Enhancers	Rectal Smooth Muscle	rectum

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