Variant report

Variant	rs10440630
Chromosome Location	chr5:58529636-58529637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58529142..58529735-chr6:26031124..26031817,2	Hela-S3	cervix:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10036406	0.89[CHB][hapmap]
rs10038599	0.89[CHB][hapmap]
rs10039990	0.95[AFR][1000 genomes]
rs10041021	0.90[CHB][hapmap]
rs10045441	0.95[AFR][1000 genomes]
rs10055446	0.80[CEU][hapmap];0.89[CHB][hapmap]
rs10058823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059709	0.81[CHD][hapmap]
rs10061786	0.89[CHB][hapmap]
rs10064893	0.83[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs10068836	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs10070294	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs10070436	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs11740402	0.83[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap]
rs11747413	0.89[CHB][hapmap]
rs13328160	0.89[CHB][hapmap]
rs13328226	0.89[CHB][hapmap]
rs17444059	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs17528257	0.89[CHB][hapmap]
rs17528285	0.89[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs17528473	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs2112959	0.89[CHB][hapmap]
rs6881054	0.89[CHB][hapmap]
rs9292200	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10440630	IPO11	cis	parietal	SCAN
rs10440630	PLK2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
2	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
4	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
5	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
7	chr5:58527400-58530200	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
9	chr5:58529400-58529800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:58529400-58532000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:58529600-58529800	Enhancers	Right Atrium	heart
12	chr5:58529600-58530000	Enhancers	A549	lung
13	chr5:58529600-58530400	Enhancers	Fetal Lung	lung
14	chr5:58529600-58530600	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:58529600-58531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:58529600-58533400	Enhancers	Fetal Heart	heart

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