Variant report

Variant	rs1994794
Chromosome Location	chr8:96317910-96317911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96316456..96319380-chr8:96319593..96323597,5	K562	blood:
2	chr8:96317249..96318240-chr8:96330378..96331048,2	MCF-7	breast:
3	chr8:96317394..96318355-chr8:96398480..96399433,5	MCF-7	breast:
4	chr8:96317494..96318183-chr8:96770674..96771530,2	MCF-7	breast:
5	chr8:96280917..96283132-chr8:96317094..96319252,2	K562	blood:
6	chr8:96317136..96318202-chr8:96639831..96640470,3	MCF-7	breast:
7	chr8:96317509..96318201-chr8:97176319..97177107,2	MCF-7	breast:
8	chr8:96317358..96318200-chr8:96398470..96399351,2	MCF-7	breast:
9	chr8:96317456..96318284-chr8:96770359..96771524,5	MCF-7	breast:
10	chr8:96316456..96319380-chr8:96320375..96323597,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11784608	1.00[CHD][hapmap]
rs13260234	1.00[ASN][1000 genomes]
rs13267037	1.00[ASN][1000 genomes]
rs13267333	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs13267612	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs13271205	1.00[ASN][1000 genomes]
rs13276926	1.00[ASN][1000 genomes]
rs34196697	1.00[ASN][1000 genomes]
rs34227899	0.83[EUR][1000 genomes]
rs34289076	1.00[ASN][1000 genomes]
rs34389602	1.00[ASN][1000 genomes]
rs34463279	1.00[ASN][1000 genomes]
rs34861861	1.00[ASN][1000 genomes]
rs34962193	1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	1.00[ASN][1000 genomes]
rs35195888	1.00[ASN][1000 genomes]
rs35273564	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511040	1.00[ASN][1000 genomes]
rs35530445	1.00[ASN][1000 genomes]
rs35543354	1.00[ASN][1000 genomes]
rs35559164	1.00[ASN][1000 genomes]
rs35809593	1.00[ASN][1000 genomes]
rs36032317	1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs55677759	1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	1.00[ASN][1000 genomes]
rs57183551	1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[ASN][1000 genomes]
rs58471124	1.00[ASN][1000 genomes]
rs58979833	1.00[ASN][1000 genomes]
rs59707579	1.00[ASN][1000 genomes]
rs60835162	1.00[ASN][1000 genomes]
rs61185934	1.00[ASN][1000 genomes]
rs61730929	1.00[ASN][1000 genomes]
rs61730932	1.00[ASN][1000 genomes]
rs61995709	1.00[ASN][1000 genomes]
rs61997199	1.00[ASN][1000 genomes]
rs6471526	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004873	1.00[ASN][1000 genomes]
rs71532351	1.00[ASN][1000 genomes]
rs71532352	1.00[ASN][1000 genomes]
rs71532353	1.00[ASN][1000 genomes]
rs73266490	1.00[ASN][1000 genomes]
rs73268303	1.00[ASN][1000 genomes]
rs73268328	1.00[ASN][1000 genomes]
rs73695429	1.00[ASN][1000 genomes]
rs73695431	1.00[ASN][1000 genomes]
rs73695432	1.00[ASN][1000 genomes]
rs73695433	1.00[ASN][1000 genomes]
rs73695435	1.00[ASN][1000 genomes]
rs73695436	1.00[ASN][1000 genomes]
rs73695437	1.00[ASN][1000 genomes]
rs73695438	1.00[ASN][1000 genomes]
rs73695439	1.00[ASN][1000 genomes]
rs7814173	1.00[ASN][1000 genomes]
rs7815085	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7841828	1.00[ASN][1000 genomes]
rs894149	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429930	chr8:96317910-96454743	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1994794	RBM12B	cis	cerebellum	SCAN
rs1994794	RAD54B	cis	multi-tissue	Pritchard

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96317400-96318000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr8:96317400-96318200	Bivalent Enhancer	Osteobl	bone
3	chr8:96317800-96318400	Enhancers	Colon Smooth Muscle	Colon

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