Variant report

Variant	rs249465
Chromosome Location	chr5:5018805-5018806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5016117..5018968-chr5:5021980..5023753,2	K562	blood:
2	chr5:5017671..5019822-chr5:5068960..5071116,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10056566	1.00[CEU][hapmap]
rs10067991	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10512763	1.00[CEU][hapmap]
rs11951905	1.00[CEU][hapmap]
rs16874638	1.00[CEU][hapmap]
rs16874650	1.00[CEU][hapmap]
rs171607	1.00[CEU][hapmap]
rs173625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249449	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs249451	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs249454	1.00[CEU][hapmap]
rs249456	1.00[CEU][hapmap]
rs249463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249474	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs464252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5015800-5021000	Weak transcription	Fetal Brain Male	brain
2	chr5:5017400-5020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:5017600-5019200	Enhancers	NH-A	brain
4	chr5:5017600-5019800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:5017600-5020400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:5017800-5019800	Enhancers	Osteobl	bone
7	chr5:5018000-5019200	Enhancers	NHDF-Ad	bronchial
8	chr5:5018000-5019400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:5018000-5019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:5018000-5020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:5018200-5019000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:5018200-5019200	Enhancers	HSMM	muscle
13	chr5:5018200-5019800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:5018400-5019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:5018600-5019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:5018600-5019000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:5018600-5019000	Enhancers	Fetal Muscle Trunk	muscle
18	chr5:5018600-5019000	Enhancers	HMEC	breast
19	chr5:5018600-5019000	Enhancers	HSMMtube	muscle
20	chr5:5018600-5019200	Enhancers	NHEK	skin
21	chr5:5018800-5019000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:5018800-5019000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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