Variant report

Variant	rs4867146
Chromosome Location	chr5:28398146-28398147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4260681	0.96[ASN][1000 genomes]
rs4282327	0.96[ASN][1000 genomes]
rs4443428	0.96[ASN][1000 genomes]
rs4507496	0.96[ASN][1000 genomes]
rs7710853	0.80[EUR][1000 genomes]
rs7716855	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9292253	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880550	chr5:27863157-28732126	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1026700	chr5:28067287-28978638	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv537707	chr5:28067287-28978638	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1017761	chr5:28270595-28494470	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv537709	chr5:28270595-28494470	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1029219	chr5:28370908-29086506	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv537710	chr5:28370908-29086506	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28391800-28404000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:28397200-28398800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:28397200-28401200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:28397200-28401200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:28397400-28398200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:28397400-28398200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:28397400-28398200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:28397400-28398200	Flanking Active TSS	NH-A	brain
9	chr5:28397400-28398600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:28397400-28398600	Enhancers	Fetal Heart	heart
11	chr5:28397400-28398600	Enhancers	Fetal Kidney	kidney
12	chr5:28397400-28398800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:28397400-28398800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:28397400-28398800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:28397400-28398800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:28397400-28398800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:28397400-28398800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:28397400-28398800	Enhancers	HMEC	breast
19	chr5:28397400-28399000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:28397600-28398200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:28397600-28398400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:28397600-28398400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:28397600-28398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:28397600-28398600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:28397800-28398200	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:28397800-28398600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:28397800-28398600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:28397800-28399600	Enhancers	HSMMtube	muscle

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