Variant report

Variant	rs7040193
Chromosome Location	chr9:8955408-8955409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10511517	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12551362	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12552498	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12554851	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12555534	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12555539	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1347241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs1541935	0.88[JPT][hapmap]
rs16928670	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2117105	0.81[JPT][hapmap];1.00[AMR][1000 genomes]
rs4526401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs58943712	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59400368	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60028206	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7022702	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs919860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2762789	chr9:8903357-9030039	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv613299	chr9:8903857-9032105	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1023691	chr9:8907952-9030627	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv539981	chr9:8907952-9030627	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv969748	chr9:8924798-8993842	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892246	chr9:8926071-8993027	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1021214	chr9:8929663-9011443	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1015673	chr9:8929663-9016071	Enhancers Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv466125	chr9:8939940-8993618	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv466126	chr9:8939940-8993618	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
15	nsv613300	chr9:8939940-8993618	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8950000-8961200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:8954800-8956000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:8955000-8955600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:8955000-8956600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:8955000-8957200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:8955200-8957000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:8955200-8957000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:8955400-8956800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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