Variant report

Variant	rs6957593
Chromosome Location	chr7:14772909-14772910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10215015	0.85[ASN][1000 genomes]
rs10234845	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10237911	0.81[GIH][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs10243441	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap]
rs10273485	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10273894	1.00[CHB][hapmap]
rs12673704	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1464821	0.87[JPT][hapmap]
rs1525091	0.87[JPT][hapmap]
rs1525092	0.87[JPT][hapmap]
rs1525094	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1525095	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1525097	0.84[JPT][hapmap]
rs1525098	0.89[JPT][hapmap]
rs1639233	0.91[JPT][hapmap]
rs1639234	0.87[JPT][hapmap]
rs1639236	0.91[JPT][hapmap]
rs1639238	0.87[JPT][hapmap]
rs1639239	0.87[JPT][hapmap]
rs1639240	0.87[JPT][hapmap]
rs1639241	0.87[JPT][hapmap]
rs1723226	0.87[JPT][hapmap]
rs1723229	0.82[JPT][hapmap]
rs1723230	0.83[JPT][hapmap]
rs1723231	0.87[JPT][hapmap]
rs1723232	0.86[JPT][hapmap]
rs1723233	0.85[JPT][hapmap]
rs1723234	0.87[JPT][hapmap]
rs1723235	0.86[JPT][hapmap]
rs1723236	0.86[JPT][hapmap]
rs1723237	0.86[JPT][hapmap]
rs1723238	0.86[JPT][hapmap]
rs1723244	0.86[JPT][hapmap]
rs1723245	0.86[JPT][hapmap]
rs1723246	0.86[JPT][hapmap]
rs1723247	0.86[JPT][hapmap]
rs1723248	0.91[JPT][hapmap]
rs1723250	0.90[JPT][hapmap]
rs1723255	0.90[JPT][hapmap]
rs1880549	0.87[JPT][hapmap]
rs1880551	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880552	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880553	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2098145	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358067	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4518556	0.86[JPT][hapmap]
rs4632953	0.83[JPT][hapmap]
rs4719419	0.91[JPT][hapmap]
rs4721361	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721364	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721368	0.86[JPT][hapmap]
rs6946940	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947133	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967001	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6977546	0.89[JPT][hapmap]
rs714980	0.83[GIH][hapmap]
rs7796443	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs7809161	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690434	1.00[CHB][hapmap]
rs979499	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs979501	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887712	chr7:14717872-14829858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6957593	HDAC9	cis	parietal	SCAN
rs6957593	DGKB	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14712800-14775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14763400-14774800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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