Variant report

Variant	rs1331504
Chromosome Location	chr9:93405828-93405829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:93404541-93405878	A549	lung:	n/a	chr9:93405196-93405209 chr9:93405123-93405136 chr9:93405113-93405126
2	MXI1	chr9:93404172-93405901	SK-N-SH	brain:	n/a	n/a
3	REST	chr9:93403253-93406078	H1-neurons	neurons:	n/a	chr9:93405362-93405375
4	RFX5	chr9:93404641-93406175	SK-N-SH	brain:	n/a	n/a
5	MAFK	chr9:93405695-93405999	HepG2	liver:	n/a	chr9:93405830-93405839
6	RAD21	chr9:93404147-93406009	SK-N-SH	brain:	n/a	chr9:93405268-93405281 chr9:93405116-93405130
7	MAFK	chr9:93405711-93405975	IMR90	lung:	n/a	chr9:93405830-93405839

Variant related genes	Relation type
DIRAS2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11792561	1.00[ASN][1000 genomes]
rs12005463	1.00[ASN][1000 genomes]
rs12550873	1.00[ASN][1000 genomes]
rs12552742	1.00[ASN][1000 genomes]
rs12682953	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685847	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686576	1.00[ASN][1000 genomes]
rs1460836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454793	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558496	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558501	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558550	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558551	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558553	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62558557	1.00[ASN][1000 genomes]
rs62559062	1.00[ASN][1000 genomes]
rs62559063	1.00[ASN][1000 genomes]
rs7019286	1.00[ASN][1000 genomes]
rs7046491	1.00[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	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv482757	chr9:93356095-93543903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr9:93402800-93406000	Active TSS	Brain Anterior Caudate	brain
2	chr9:93403200-93406000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:93405400-93406000	Enhancers	Liver	Liver
4	chr9:93405600-93406000	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:93405600-93406000	Enhancers	Duodenum Mucosa	Duodenum
6	chr9:93405800-93406000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr9:93405800-93406000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr9:93405800-93406000	Enhancers	Cortex derived primary cultured neurospheres	brain

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