Variant report

Variant	rs1930135
Chromosome Location	chr9:101411132-101411133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101410087..101412013-chr9:101419339..101421077,2	K562	blood:
2	chr9:101402798..101408873-chr9:101409317..101413472,7	K562	blood:
3	chr9:101409611..101411136-chr9:101414826..101416464,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10512258	1.00[YRI][hapmap]
rs10987128	0.88[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11788000	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12379166	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547272	0.88[CEU][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1571927	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1930131	0.88[GIH][hapmap];0.83[MEX][hapmap]
rs1930139	0.89[ASW][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs1930410	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2065452	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2225558	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs337526	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs337528	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs4742734	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743241	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743242	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743248	0.84[AFR][1000 genomes]
rs6478785	0.81[JPT][hapmap]
rs6478789	0.98[ASN][1000 genomes]
rs6478811	0.83[ASW][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7020492	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7033796	0.91[CEU][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7035420	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7048344	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv466441	chr9:101362833-101419832	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv614952	chr9:101362833-101419832	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv893616	chr9:101371017-101472921	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101410800-101411200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr9:101410800-101411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:101410800-101411800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:101411000-101411400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:101411000-101412000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:101411000-101412600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:101411000-101413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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