Variant report

Variant	rs295949
Chromosome Location	chr5:58896538-58896539
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056137	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs159393	0.95[EUR][1000 genomes]
rs172363	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs291118	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs291119	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs291120	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs294480	0.86[EUR][1000 genomes]
rs294491	0.95[EUR][1000 genomes]
rs294503	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes]
rs295945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs295976	1.00[EUR][1000 genomes]
rs295977	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41404047	0.88[CHB][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	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	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
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv598256	chr5:58893286-58939840	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58884200-58902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58894600-58898800	Weak transcription	Aorta	Aorta
3	chr5:58894600-58901400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:58894600-58902000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:58894800-58896800	Weak transcription	Small Intestine	intestine
6	chr5:58894800-58897000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:58894800-58897000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58894800-58897600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58894800-58898800	Weak transcription	GM12878-XiMat	blood
10	chr5:58894800-58900200	Weak transcription	Fetal Heart	heart
11	chr5:58894800-58902400	Weak transcription	Fetal Lung	lung
12	chr5:58894800-58902800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:58894800-58903000	Weak transcription	Psoas Muscle	Psoas
14	chr5:58894800-58903400	Weak transcription	Fetal Kidney	kidney
15	chr5:58894800-58904800	Weak transcription	HSMMtube	muscle
16	chr5:58894800-58910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:58894800-58910800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:58895000-58896600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:58895000-58896600	Weak transcription	Stomach Mucosa	stomach
20	chr5:58895000-58896800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:58895000-58896800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:58895000-58897000	Enhancers	Brain Hippocampus Middle	brain
23	chr5:58895000-58897000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:58895000-58897000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:58895600-58897000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:58895800-58911200	Weak transcription	Hela-S3	cervix
27	chr5:58896200-58896600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:58896200-58897000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:58896200-58897400	Enhancers	Brain Substantia Nigra	brain
30	chr5:58896200-58902800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:58896400-58896600	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:58896400-58896800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:58896400-58897400	Enhancers	A549	lung

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