Variant report

Variant	rs17395548
Chromosome Location	chr5:114930295-114930296
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114930059..114933098-chr5:114935094..114939412,3	K562	blood:
2	chr5:114930114..114932547-chr5:114952290..114954569,2	K562	blood:

Variant related genes	Relation type
ENSG00000243414	Chromatin interaction
ENSG00000249249	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11740361	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1427860	0.86[EUR][1000 genomes]
rs17137925	1.00[CHB][hapmap]
rs17137978	0.86[EUR][1000 genomes]
rs17393505	0.82[EUR][1000 genomes]
rs17393664	0.80[EUR][1000 genomes]
rs17395582	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472256	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472710	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473708	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473792	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17474216	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2194114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776801	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776802	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73253029	0.94[ASN][1000 genomes]
rs7712026	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114911200-114935600	Weak transcription	Gastric	stomach
2	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
3	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:114919800-114935600	Weak transcription	NH-A	brain
6	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:114922800-114930400	Weak transcription	NHLF	lung
9	chr5:114925000-114930400	Weak transcription	Psoas Muscle	Psoas
10	chr5:114925000-114934000	Weak transcription	GM12878-XiMat	blood
11	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
12	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
13	chr5:114925400-114930600	Weak transcription	Fetal Brain Female	brain
14	chr5:114926800-114932400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:114928000-114930600	Weak transcription	Right Atrium	heart
16	chr5:114929400-114930400	Enhancers	Adipose Nuclei	Adipose
17	chr5:114929400-114930800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:114929400-114931000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:114929400-114931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:114929400-114931200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:114929600-114930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:114929600-114931000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:114929600-114931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:114929600-114931600	Enhancers	Osteobl	bone
25	chr5:114929800-114930800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:114929800-114931200	Enhancers	NHDF-Ad	bronchial
27	chr5:114930000-114930600	Enhancers	HUVEC	blood vessel
28	chr5:114930000-114930800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:114930000-114930800	Enhancers	HSMM	muscle
30	chr5:114930000-114931000	Enhancers	Fetal Brain Male	brain
31	chr5:114930200-114935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix

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