Variant report

Variant	rs58847127
Chromosome Location	chr17:45335322-45335323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11649785	0.86[ASN][1000 genomes]
rs16941768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806687	0.91[ASN][1000 genomes]
rs3744453	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55845779	0.88[ASN][1000 genomes]
rs55846810	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56194063	0.87[EUR][1000 genomes]
rs56225350	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58365772	0.87[EUR][1000 genomes]
rs58611856	0.90[EUR][1000 genomes]
rs58875262	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7217214	0.86[ASN][1000 genomes]
rs73324412	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs884696	0.91[ASN][1000 genomes]
rs951351	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs988684	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45332200-45335400	Weak transcription	Fetal Heart	heart
2	chr17:45332200-45336000	Weak transcription	Spleen	Spleen
3	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:45333600-45336400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:45334000-45335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:45334000-45335600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:45334200-45335800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:45334200-45336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45334400-45335800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:45334400-45335800	Enhancers	NHLF	lung
12	chr17:45334400-45336000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:45334400-45336200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr17:45334400-45336200	Enhancers	Colon Smooth Muscle	Colon
15	chr17:45334600-45335800	Enhancers	HMEC	breast
16	chr17:45334600-45335800	Enhancers	HSMMtube	muscle
17	chr17:45334800-45335800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:45334800-45335800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:45334800-45335800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:45334800-45335800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr17:45334800-45335800	Flanking Active TSS	NHDF-Ad	bronchial
22	chr17:45334800-45335800	Flanking Active TSS	Osteobl	bone
23	chr17:45334800-45336200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:45335000-45335600	Enhancers	Rectal Smooth Muscle	rectum
25	chr17:45335000-45335800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:45335000-45335800	Enhancers	Left Ventricle	heart
27	chr17:45335000-45335800	Enhancers	GM12878-XiMat	blood
28	chr17:45335000-45335800	Flanking Active TSS	HSMM	muscle
29	chr17:45335000-45335800	Flanking Active TSS	HUVEC	blood vessel
30	chr17:45335000-45335800	Flanking Active TSS	K562	blood
31	chr17:45335200-45335400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr17:45335200-45335400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr17:45335200-45335400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr17:45335200-45335400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:45335200-45335400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:45335200-45335400	Bivalent Enhancer	Placenta	Placenta
37	chr17:45335200-45335600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:45335200-45335600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr17:45335200-45335600	Enhancers	Ovary	ovary
40	chr17:45335200-45335600	Weak transcription	Right Atrium	heart
41	chr17:45335200-45335600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr17:45335200-45335800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:45335200-45335800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr17:45335200-45335800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:45335200-45335800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:45335200-45335800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45335200-45335800	Enhancers	Aorta	Aorta
48	chr17:45335200-45335800	Flanking Active TSS	Hela-S3	cervix
49	chr17:45335200-45335800	Bivalent Enhancer	NHEK	skin
50	chr17:45335200-45336400	Enhancers	NH-A	brain

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