Variant report

Variant	rs6993310
Chromosome Location	chr8:9289768-9289769
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10089150	1.00[AMR][1000 genomes]
rs11249921	1.00[ASN][1000 genomes]
rs11787063	1.00[JPT][hapmap]
rs1458941	1.00[AMR][1000 genomes]
rs1466337	1.00[ASN][1000 genomes]
rs17150027	1.00[EUR][1000 genomes]
rs17150032	1.00[EUR][1000 genomes]
rs1870395	0.85[ASN][1000 genomes]
rs2125522	1.00[JPT][hapmap]
rs2409572	1.00[AMR][1000 genomes]
rs2898215	1.00[AMR][1000 genomes]
rs330101	1.00[AMR][1000 genomes]
rs4451319	1.00[AMR][1000 genomes]
rs4520167	0.86[JPT][hapmap]
rs4599815	1.00[AMR][1000 genomes]
rs4840409	1.00[AMR][1000 genomes]
rs4840411	1.00[AMR][1000 genomes]
rs4841140	0.85[ASN][1000 genomes]
rs4841149	0.86[ASN][1000 genomes]
rs56784931	1.00[AMR][1000 genomes]
rs57409491	1.00[AMR][1000 genomes]
rs58868633	1.00[AMR][1000 genomes]
rs60379523	0.92[ASN][1000 genomes]
rs6601305	0.85[ASN][1000 genomes]
rs6601310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981598	1.00[AMR][1000 genomes]
rs7002894	1.00[AMR][1000 genomes]
rs7006443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73533809	1.00[AMR][1000 genomes]
rs7388458	1.00[AMR][1000 genomes]
rs7841296	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs898798	1.00[AMR][1000 genomes]
rs9693966	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027325	chr8:9264405-9333207	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1028775	chr8:9278695-9298658	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9288800-9289800	Enhancers	Fetal Brain Female	brain
2	chr8:9288800-9290200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:9289000-9290000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:9289000-9290200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:9289400-9293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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