Variant report

Variant	rs17022328
Chromosome Location	chr4:95748634-95748635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10000023	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs10003866	0.80[JPT][hapmap]
rs10004573	0.80[JPT][hapmap]
rs10008126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10010959	0.80[JPT][hapmap]
rs10018997	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1003910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10212893	0.83[JPT][hapmap]
rs11728570	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12500330	0.80[JPT][hapmap]
rs12503136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13117507	0.80[JPT][hapmap]
rs13120681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13127197	0.80[JPT][hapmap]
rs13127435	0.80[JPT][hapmap]
rs13127833	0.80[JPT][hapmap]
rs13128703	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13139046	0.80[JPT][hapmap]
rs13146319	0.87[JPT][hapmap]
rs13150342	0.80[JPT][hapmap]
rs13151193	0.80[JPT][hapmap]
rs17582232	0.90[CEU][hapmap];0.96[JPT][hapmap]
rs2107031	0.80[JPT][hapmap]
rs28429408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28501174	0.96[ASN][1000 genomes]
rs2865375	0.83[CHB][hapmap]
rs28827191	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34037032	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34371309	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4077885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4282183	0.80[JPT][hapmap]
rs4364269	0.80[JPT][hapmap]
rs4429734	0.80[JPT][hapmap]
rs4437261	0.80[JPT][hapmap]
rs4490463	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4623011	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs61706867	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62316168	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6816482	0.80[JPT][hapmap]
rs6828354	0.80[JPT][hapmap]
rs6843053	0.80[JPT][hapmap]
rs6858143	0.80[JPT][hapmap]
rs7658915	0.96[ASN][1000 genomes]
rs7663201	0.80[JPT][hapmap]
rs7668820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676033	0.80[JPT][hapmap]
rs7692640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs916876	0.80[JPT][hapmap]
rs9307148	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv518579	chr4:95706337-95755544	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv594906	chr4:95713679-95755544	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007391	chr4:95713679-95763860	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1002004	chr4:95717063-95755436	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv999588	chr4:95717063-95763860	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv997960	chr4:95719585-95766067	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv537188	chr4:95719585-95766067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95741600-95748800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:95747200-95749000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:95747200-95749200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:95747400-95748800	Enhancers	HUVEC	blood vessel
5	chr4:95747400-95749200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:95747400-95749800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95747400-95749800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:95747400-95751000	Enhancers	NHEK	skin
9	chr4:95747800-95749000	Enhancers	Dnd41	blood
10	chr4:95748000-95749400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:95748200-95750800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:95748400-95749000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:95748600-95748800	Flanking Active TSS	HMEC	breast
14	chr4:95748600-95749000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:95748600-95749000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:95748600-95749000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:95748600-95749000	Active TSS	A549	lung
18	chr4:95748600-95749000	Enhancers	HSMMtube	muscle
19	chr4:95748600-95749000	Active TSS	NH-A	brain
20	chr4:95748600-95749200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:95748600-95749200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:95748600-95749400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:95748600-95749400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:95748600-95749600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:95748600-95749800	Enhancers	NHLF	lung
26	chr4:95748600-95751000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:95748600-95751000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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