Variant report

Variant	rs1922678
Chromosome Location	chr5:112637874-112637875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:51874487..51876257-chr5:112637673..112640166,2	MCF-7	breast:
2	chr5:112637840..112639791-chr5:112646688..112648404,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10038521	1.00[JPT][hapmap]
rs10051115	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10053341	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10061462	1.00[JPT][hapmap]
rs10434754	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1157696	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13154300	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13159509	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13164135	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13164326	0.90[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13170435	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13171482	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13174075	1.00[JPT][hapmap]
rs13174151	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13174206	1.00[JPT][hapmap]
rs13177853	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13180516	1.00[JPT][hapmap]
rs13181534	1.00[JPT][hapmap]
rs13181732	1.00[JPT][hapmap]
rs13181944	0.80[EUR][1000 genomes]
rs13183383	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13184538	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13189050	1.00[JPT][hapmap]
rs1602862	0.86[AFR][1000 genomes]
rs17325307	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17325503	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17325825	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17327964	1.00[JPT][hapmap]
rs17388260	1.00[JPT][hapmap]
rs17389165	1.00[JPT][hapmap]
rs1838206	0.86[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1922679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34558181	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35359071	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4438866	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs58268366	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6594698	0.95[EUR][1000 genomes]
rs6594713	1.00[JPT][hapmap]
rs6594714	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6870401	1.00[JPT][hapmap]
rs6871934	1.00[JPT][hapmap]
rs6874175	1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6878329	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs6880562	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6883102	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6887482	1.00[JPT][hapmap]
rs6887914	1.00[JPT][hapmap]
rs6890874	1.00[JPT][hapmap]
rs6896843	0.80[EUR][1000 genomes]
rs71577442	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7701895	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7706721	1.00[JPT][hapmap]
rs7709646	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7714760	1.00[JPT][hapmap]
rs7717630	1.00[JPT][hapmap]
rs7718616	1.00[JPT][hapmap]
rs7720414	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7727056	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7727501	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7729269	1.00[JPT][hapmap]
rs7731231	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7737512	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112632200-112640800	Weak transcription	Right Atrium	heart
2	chr5:112633000-112638600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112633000-112640800	Weak transcription	HMEC	breast
4	chr5:112633200-112640800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112635800-112639800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:112636600-112639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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