Variant report

Variant	rs28433320
Chromosome Location	chr4:95850492-95850493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11940214	0.86[ASN][1000 genomes]
rs11943406	0.84[ASN][1000 genomes]
rs12642960	0.81[ASN][1000 genomes]
rs12643902	0.81[ASN][1000 genomes]
rs13103598	0.81[ASN][1000 genomes]
rs13108056	0.86[ASN][1000 genomes]
rs13110508	0.81[ASN][1000 genomes]
rs13116658	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13127704	0.81[ASN][1000 genomes]
rs13144086	0.81[ASN][1000 genomes]
rs1444930	0.87[ASN][1000 genomes]
rs17401411	0.81[ASN][1000 genomes]
rs17401571	0.81[ASN][1000 genomes]
rs1992650	0.81[ASN][1000 genomes]
rs1992651	0.81[ASN][1000 genomes]
rs28521217	0.84[ASN][1000 genomes]
rs34340033	0.81[ASN][1000 genomes]
rs3775006	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3775007	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3775017	1.00[ASN][1000 genomes]
rs3775021	0.87[ASN][1000 genomes]
rs3775022	0.86[ASN][1000 genomes]
rs3775024	0.84[ASN][1000 genomes]
rs3775025	0.86[ASN][1000 genomes]
rs3775026	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796413	0.81[ASN][1000 genomes]
rs3796424	0.81[ASN][1000 genomes]
rs41420348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62316224	0.81[ASN][1000 genomes]
rs6849425	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671870	0.82[ASN][1000 genomes]
rs7691748	0.81[ASN][1000 genomes]
rs930581	0.81[ASN][1000 genomes]
rs9307150	0.81[ASN][1000 genomes]
rs9684200	0.81[ASN][1000 genomes]
rs9684808	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95831000-95855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:95849000-95850600	Enhancers	A549	lung
3	chr4:95849200-95850800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:95849200-95852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95849200-95852800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:95849200-95854600	Weak transcription	NH-A	brain
7	chr4:95849200-95855200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:95849200-95856400	Weak transcription	Aorta	Aorta
9	chr4:95849200-95861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95849400-95850600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:95849600-95850800	Weak transcription	Ovary	ovary
12	chr4:95849600-95852600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:95849600-95853000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:95849600-95853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:95849600-95855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:95849600-95856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:95849800-95850600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:95849800-95855000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:95850000-95850800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:95850000-95852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:95850200-95851200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:95850200-95852000	Enhancers	Fetal Kidney	kidney
23	chr4:95850200-95855000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:95850400-95851000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:95850400-95851200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:95850400-95855600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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