Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96425190..96428341-chr5:96429686..96433552,4	K562	blood:

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

rs_ID	r²[population]
rs10039917	0.83[ASN][1000 genomes]
rs10043135	0.84[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10071737	0.81[ASN][1000 genomes]
rs1035507	0.83[ASN][1000 genomes]
rs10463198	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs11954059	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13167790	0.80[ASN][1000 genomes]
rs182625	0.88[ASN][1000 genomes]
rs2287903	0.83[ASN][1000 genomes]
rs2544776	0.86[ASN][1000 genomes]
rs316178	0.81[ASN][1000 genomes]
rs316190	0.84[ASN][1000 genomes]
rs316201	0.84[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs316203	0.80[ASN][1000 genomes]
rs316204	0.80[ASN][1000 genomes]
rs316205	0.80[ASN][1000 genomes]
rs316207	0.85[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs316209	0.85[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs316213	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs316217	0.83[ASN][1000 genomes]
rs316218	0.82[ASN][1000 genomes]
rs316219	0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs316223	0.85[ASN][1000 genomes]
rs316224	0.88[ASN][1000 genomes]
rs316232	0.88[ASN][1000 genomes]
rs316233	0.84[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs316234	0.82[ASW][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs389536	0.86[ASN][1000 genomes]
rs392723	0.83[ASN][1000 genomes]
rs444243	0.82[ASN][1000 genomes]
rs7717829	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv969966	chr5:96418895-96427787	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6556945	LIX1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96422600-96425400	Strong transcription	Primary B cells from cord blood	blood
2	chr5:96422600-96426400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:96423200-96430200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:96424200-96425800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:96424800-96425400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr5:96424800-96427000	Flanking Active TSS	K562	blood
7	chr5:96425000-96425400	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:96425000-96425400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:96425000-96425400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:96425200-96425400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:96425200-96426200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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