Variant report

Variant	rs2548599
Chromosome Location	chr5:57703549-57703550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs151914	0.83[YRI][hapmap]
rs151915	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151921	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs151922	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs151923	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs154681	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs244698	0.96[EUR][1000 genomes]
rs244700	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2652499	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2662618	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26976	0.93[EUR][1000 genomes]
rs26979	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27212	0.89[EUR][1000 genomes]
rs27604	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27917	0.90[EUR][1000 genomes]
rs36645	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs399282	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs412028	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs451022	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696189	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs697087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697088	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702586	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834935	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508358	chr5:57673230-57709684	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1028460	chr5:57691003-57719435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57699000-57705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:57699600-57704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57699600-57708200	Enhancers	HMEC	breast
4	chr5:57699800-57704800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57700000-57708000	Enhancers	NHEK	skin
6	chr5:57700400-57704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:57700600-57703600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:57700600-57703600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:57700600-57703600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:57701000-57703600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:57701000-57705800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:57701200-57703600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:57701400-57706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:57702200-57703600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:57702200-57703600	Enhancers	HSMMtube	muscle
16	chr5:57702200-57703800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:57702200-57703800	Enhancers	Osteobl	bone
18	chr5:57702200-57704200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:57702400-57704000	Enhancers	NHDF-Ad	bronchial
20	chr5:57702400-57705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:57702400-57706600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:57702600-57704400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:57702800-57703600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:57702800-57703600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:57702800-57703800	Flanking Active TSS	A549	lung
26	chr5:57702800-57704600	Enhancers	HSMM	muscle
27	chr5:57702800-57705400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:57703000-57703600	Enhancers	Hela-S3	cervix
29	chr5:57703000-57703800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:57703000-57703800	Enhancers	NHLF	lung
31	chr5:57703000-57704000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:57703000-57704600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:57703200-57704400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:57703200-57704400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:57703400-57704000	Enhancers	NH-A	brain

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