Variant report

Variant	rs7729339
Chromosome Location	chr5:58814089-58814090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16889878	1.00[CHB][hapmap]
rs16889906	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16889912	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16889913	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16889921	0.82[CHB][hapmap]
rs61349922	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870929	1.00[ASN][1000 genomes]
rs73097370	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73097395	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73097399	0.87[AFR][1000 genomes]
rs73099606	0.90[AFR][1000 genomes]
rs73758975	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73760623	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7734463	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58800600-58815000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58801400-58817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:58811200-58817000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:58813200-58814200	Enhancers	HSMMtube	muscle
7	chr5:58813200-58815000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58813200-58815000	Enhancers	HMEC	breast
9	chr5:58813200-58815400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:58813200-58815600	Enhancers	HSMM	muscle
11	chr5:58813200-58815800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:58813400-58814400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:58813400-58814400	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:58813400-58814400	Enhancers	NHLF	lung
15	chr5:58813400-58814600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:58813400-58814600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:58813400-58814600	Enhancers	NHEK	skin
18	chr5:58813400-58814600	Enhancers	Osteobl	bone
19	chr5:58813400-58814800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:58813600-58814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:58813600-58814800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:58813600-58815200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:58813800-58814200	Enhancers	Brain Substantia Nigra	brain
25	chr5:58813800-58814200	Weak transcription	Psoas Muscle	Psoas
26	chr5:58813800-58814200	Weak transcription	NHDF-Ad	bronchial
27	chr5:58813800-58814400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:58813800-58814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:58813800-58814400	Flanking Active TSS	HUVEC	blood vessel
30	chr5:58813800-58815200	Enhancers	NH-A	brain
31	chr5:58814000-58814200	Flanking Active TSS	A549	lung

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