Variant report

Variant	rs17134224
Chromosome Location	chr5:111530480-111530481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111526915..111528701-chr5:111529472..111532258,2	K562	blood:

Variant related genes	Relation type
ENSG00000251187	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17134157	1.00[CEU][hapmap]
rs17134218	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134223	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134225	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134226	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134228	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17134238	0.93[AFR][1000 genomes]
rs17134244	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134245	0.88[AFR][1000 genomes]
rs17134250	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17267182	0.87[EUR][1000 genomes]
rs17268557	0.87[EUR][1000 genomes]
rs17321278	0.87[EUR][1000 genomes]
rs17321396	0.87[EUR][1000 genomes]
rs34008454	0.87[EUR][1000 genomes]
rs55873492	0.87[EUR][1000 genomes]
rs55919756	0.87[EUR][1000 genomes]
rs56062009	0.87[EUR][1000 genomes]
rs57449938	0.91[AFR][1000 genomes]
rs60003028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871287	1.00[EUR][1000 genomes]
rs6871505	0.87[EUR][1000 genomes]
rs6898180	0.87[EUR][1000 genomes]
rs7715098	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7723060	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs922430	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
3	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
4	chr5:111502800-111546000	Weak transcription	Ovary	ovary
5	chr5:111503600-111537400	Weak transcription	Lung	lung
6	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
7	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:111504800-111586400	Weak transcription	Gastric	stomach
9	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:111510800-111540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
13	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:111519200-111532600	Weak transcription	Fetal Kidney	kidney
15	chr5:111519200-111537400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
17	chr5:111519400-111530600	Weak transcription	Left Ventricle	heart
18	chr5:111519400-111531800	Weak transcription	Fetal Heart	heart
19	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
20	chr5:111523400-111540600	Weak transcription	Hela-S3	cervix
21	chr5:111523800-111537400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:111526400-111537400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:111528200-111535200	Weak transcription	Fetal Intestine Large	intestine
24	chr5:111529200-111531200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:111529400-111532400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:111529400-111534800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:111530400-111531200	Strong transcription	Adipose Nuclei	Adipose

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