Variant report

Variant	rs291118
Chromosome Location	chr5:58840714-58840715
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056137	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10058879	0.91[EUR][1000 genomes]
rs159393	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs172363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294480	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294491	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs294503	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs295945	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs295949	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs295976	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs295977	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41404047	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462189	chr5:58830145-58879822	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598255	chr5:58830145-58879822	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58834600-58840800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:58836600-58854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58836800-58857400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:58837400-58840800	Enhancers	Fetal Kidney	kidney
5	chr5:58837600-58841400	Enhancers	Fetal Lung	lung
6	chr5:58838200-58843600	Weak transcription	Psoas Muscle	Psoas
7	chr5:58839000-58840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:58839600-58843600	Weak transcription	Gastric	stomach
9	chr5:58840000-58842200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:58840000-58843400	Weak transcription	Pancreas	Pancrea
11	chr5:58840000-58851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:58840200-58840800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:58840200-58843600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:58840200-58844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:58840200-58849000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58840200-58849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:58840200-58858800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:58840400-58841200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:58840400-58842400	Weak transcription	Brain Anterior Caudate	brain
20	chr5:58840400-58842400	Weak transcription	Stomach Mucosa	stomach
21	chr5:58840400-58843600	Weak transcription	Brain Angular Gyrus	brain
22	chr5:58840400-58844200	Weak transcription	Liver	Liver
23	chr5:58840400-58850800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:58840400-58853200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:58840400-58856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:58840600-58840800	Enhancers	Fetal Brain Male	brain
27	chr5:58840600-58840800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:58840600-58841400	Transcr. at gene 5' and 3'	A549	lung
29	chr5:58840600-58842800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:58840600-58843400	Weak transcription	Hela-S3	cervix
31	chr5:58840600-58843600	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:58840600-58844600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:58840600-58844800	Weak transcription	Small Intestine	intestine
34	chr5:58840600-58851400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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