Variant report

Variant	rs16867614
Chromosome Location	chr4:20280038-20280039
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20274898..20276936-chr4:20279121..20281549,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10516347	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10516348	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10516350	0.82[JPT][hapmap];0.91[AFR][1000 genomes]
rs10516354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11942988	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16867613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16869447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869450	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869454	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16869455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869465	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16869475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16869481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1951740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2296014	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56967065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57013929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61114792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6832019	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6833323	0.87[AFR][1000 genomes]
rs715214	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73803832	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7661055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7668570	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7668724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7668969	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7668991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7673645	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7674173	0.81[AFR][1000 genomes];0.94[AMR][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	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv593792	chr4:20275477-20362716	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:20273800-20286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:20274400-20282200	Weak transcription	Fetal Kidney	kidney
6	chr4:20274600-20280800	Weak transcription	NHEK	skin
7	chr4:20274600-20285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:20274600-20286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20274600-20288600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:20276000-20281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:20276400-20283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:20276400-20286000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:20277400-20280800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:20277400-20283000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:20277400-20286400	Weak transcription	Osteobl	bone
16	chr4:20278400-20284400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:20278600-20281000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:20278600-20283000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:20278600-20283400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:20278600-20283400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:20278800-20280800	Weak transcription	NHDF-Ad	bronchial
22	chr4:20278800-20282200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:20278800-20283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:20278800-20290400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:20279600-20280400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:20279800-20280200	Enhancers	Fetal Lung	lung
28	chr4:20280000-20280200	Enhancers	Placenta Amnion	Placenta Amnion

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