Variant report

Variant	rs10070436
Chromosome Location	chr5:58550143-58550144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10036406	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10038599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10055446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059709	0.88[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10060200	0.81[CEU][hapmap]
rs10061600	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061786	1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs10064893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10070294	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10075364	0.87[ASN][1000 genomes]
rs10079614	0.84[EUR][1000 genomes]
rs10440630	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs11740402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11747413	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs13328160	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs13328226	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13360907	0.89[ASN][1000 genomes]
rs17444059	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs17528257	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs17528285	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17528473	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17528634	1.00[AFR][1000 genomes]
rs17724250	0.81[CEU][hapmap]
rs17780213	0.84[EUR][1000 genomes]
rs17780584	1.00[AFR][1000 genomes]
rs1824159	0.81[CEU][hapmap]
rs2044419	0.84[EUR][1000 genomes]
rs2112959	1.00[CHB][hapmap]
rs28529077	0.87[ASN][1000 genomes]
rs28647633	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55837553	1.00[AFR][1000 genomes]
rs56183128	0.84[EUR][1000 genomes]
rs57516309	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60453299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6881054	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72765932	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765942	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72765953	0.87[ASN][1000 genomes]
rs72765961	0.87[ASN][1000 genomes]
rs72765990	1.00[AFR][1000 genomes]
rs72765993	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72767710	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58535600-58551800	Weak transcription	HUVEC	blood vessel
2	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
4	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:58542200-58551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:58543200-58552400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:58543600-58552200	Weak transcription	Fetal Intestine Large	intestine
10	chr5:58544400-58551400	Weak transcription	Fetal Kidney	kidney
11	chr5:58544400-58553000	Weak transcription	Left Ventricle	heart
12	chr5:58546400-58552400	Weak transcription	Psoas Muscle	Psoas
13	chr5:58548600-58550200	Enhancers	Fetal Lung	lung
14	chr5:58548600-58552200	Weak transcription	Fetal Heart	heart
15	chr5:58549000-58552200	Weak transcription	Fetal Stomach	stomach
16	chr5:58549000-58553800	Weak transcription	Stomach Mucosa	stomach
17	chr5:58549000-58555200	Weak transcription	Hela-S3	cervix
18	chr5:58549400-58551400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:58549400-58551600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58549400-58552000	Enhancers	Colon Smooth Muscle	Colon
21	chr5:58549600-58550400	Enhancers	HepG2	liver
22	chr5:58549800-58550400	Enhancers	Liver	Liver
23	chr5:58549800-58550400	Active TSS	A549	lung
24	chr5:58549800-58553200	Enhancers	Pancreatic Islets	Pancreatic Islet

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