Variant report

Variant	rs1328373
Chromosome Location	chr13:93965886-93965887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93963378..93968505-chr13:93974566..93977658,4	K562	blood:
2	chr13:93963069..93968175-chr13:93968737..93971609,6	K562	blood:
3	chr13:93870748..93872599-chr13:93963716..93966106,2	K562	blood:
4	chr13:93961269..93969594-chr13:93973410..93977735,11	K562	blood:
5	chr13:93964723..93967085-chr13:108503878..108506651,2	K562	blood:
6	chr13:93965717..93968015-chr13:108517543..108519565,2	K562	blood:

Variant related genes	Relation type
ENSG00000204442	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10507998	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs1323997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1328374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16948616	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17267544	0.86[CEU][hapmap];0.94[CHB][hapmap]
rs17267585	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs2025948	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2057525	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4142602	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7339043	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9301866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516203	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs9516204	0.92[CEU][hapmap];0.94[CHB][hapmap]
rs9516205	0.92[CEU][hapmap];0.94[CHB][hapmap]
rs9516208	0.81[AMR][1000 genomes]
rs9523992	0.83[CEU][hapmap]
rs9523993	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs9523994	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs9523995	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs9523996	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9524000	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs9524001	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9556278	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9561296	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs9561297	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs9561300	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9561305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1050202	chr13:93961478-93982388	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93957600-93968400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:93958200-93969800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:93962600-93968400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:93962800-93968200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:93962800-93968400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:93962800-93968400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:93963000-93968000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:93963000-93973400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:93963200-93971600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:93964800-93968200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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