Variant report

Variant	rs62074395
Chromosome Location	chr17:45334268-45334269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45331567..45334832-chr17:45348369..45350446,3	K562	blood:
2	chr17:45332159..45334737-chr17:45364459..45366214,2	K562	blood:
3	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11650022	0.83[EUR][1000 genomes]
rs11653733	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218711	0.88[EUR][1000 genomes]
rs5918	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62074393	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074394	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074396	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074428	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7214096	0.87[EUR][1000 genomes]
rs73316435	1.00[ASN][1000 genomes]
rs8069732	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8073179	0.83[EUR][1000 genomes]
rs8077238	0.84[EUR][1000 genomes]
rs8077375	0.84[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45331800-45334800	Weak transcription	Hela-S3	cervix
2	chr17:45332200-45335000	Weak transcription	Right Atrium	heart
3	chr17:45332200-45335000	Weak transcription	GM12878-XiMat	blood
4	chr17:45332200-45335200	Weak transcription	Ovary	ovary
5	chr17:45332200-45335400	Weak transcription	Fetal Heart	heart
6	chr17:45332200-45336000	Weak transcription	Spleen	Spleen
7	chr17:45332400-45334400	Weak transcription	Adipose Nuclei	Adipose
8	chr17:45332400-45334400	Weak transcription	NH-A	brain
9	chr17:45332400-45334400	Weak transcription	NHLF	lung
10	chr17:45332400-45334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:45332800-45334400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:45332800-45334800	Enhancers	Osteobl	bone
13	chr17:45332800-45335200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:45333000-45335000	Enhancers	K562	blood
15	chr17:45333200-45334600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:45333200-45334800	Enhancers	NHDF-Ad	bronchial
17	chr17:45333200-45335000	Enhancers	HUVEC	blood vessel
18	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:45333600-45334400	Enhancers	Left Ventricle	heart
20	chr17:45333600-45336400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45333800-45334400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45333800-45334400	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr17:45333800-45334800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:45333800-45335000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr17:45334000-45334800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr17:45334000-45335200	Weak transcription	Aorta	Aorta
27	chr17:45334000-45335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:45334000-45335600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:45334200-45334400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr17:45334200-45334600	Weak transcription	HSMMtube	muscle
32	chr17:45334200-45334800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:45334200-45334800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:45334200-45335000	Enhancers	HSMM	muscle
35	chr17:45334200-45335200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:45334200-45335800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:45334200-45336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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