Variant report

Variant	rs1388323
Chromosome Location	chr4:20840983-20840984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10001877	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs10001943	0.97[ASN][1000 genomes]
rs10001999	0.85[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs10002410	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs10003410	0.94[ASN][1000 genomes]
rs10003614	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10004954	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10005254	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs10013917	0.97[ASN][1000 genomes]
rs10013980	0.91[CEU][hapmap];0.97[ASN][1000 genomes]
rs10018257	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10021498	0.89[CEU][hapmap];0.94[JPT][hapmap]
rs10025134	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10027311	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10031021	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs10938808	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10938809	0.89[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10938810	0.91[ASN][1000 genomes]
rs11726329	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11727733	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11735609	0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes]
rs11934232	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs11942985	1.00[ASN][1000 genomes]
rs12641660	0.98[ASN][1000 genomes]
rs1388322	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1388325	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28425573	1.00[ASN][1000 genomes]
rs28556906	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696967	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4697188	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4697189	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4697190	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55934998	1.00[ASN][1000 genomes]
rs56330937	1.00[ASN][1000 genomes]
rs6447987	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447988	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447989	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6447990	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6828041	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7660727	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7660734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7672234	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs7682091	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682422	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9799795	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9991691	0.92[ASN][1000 genomes]
rs9996124	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9999131	0.84[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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20834800-20850800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:20835800-20841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:20838600-20841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:20838800-20841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:20839600-20843200	Enhancers	HUVEC	blood vessel
6	chr4:20840200-20841400	Enhancers	NHEK	skin
7	chr4:20840400-20841000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:20840400-20841200	Weak transcription	HMEC	breast

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