Variant report

Variant	rs5994451
Chromosome Location	chr22:32323511-32323512
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:32321495-32324143	GM12878	blood:
2	chr22:32319596..32321684-chr22:32321709..32323891,2	K562	blood:
3	22:31803954-31807204..22:32321495-32324143	GM12878	blood:
4	chr22:32321616..32325715-chr22:32339030..32342356,3	MCF-7	breast:
5	22:32170492-32188129..22:32321495-32324143	GM12878	blood:
6	22:32228866-32235273..22:32321495-32324143	GM12878	blood:
7	chr22:32320601..32327336-chr22:32339153..32343531,7	K562	blood:
8	22:32162110-32166713..22:32321495-32324143	GM12878	blood:
9	22:32292186-32294405..22:32321495-32324143	GM12878	blood:
10	22:31836635-31847259..22:32321495-32324143	GM12878	blood:
11	chr22:32323158..32326608-chr22:32339959..32342219,4	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000252909	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012068	0.85[LWK][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap]
rs11703587	0.91[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11703779	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015580	0.91[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820994	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820996	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820997	0.91[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820998	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820999	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749339	0.83[ASN][1000 genomes]
rs5753816	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753817	0.91[CEU][hapmap];0.83[ASN][1000 genomes]
rs5753818	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753820	0.82[ASN][1000 genomes]
rs5994449	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs5998173	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5998176	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619241	0.83[EUR][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	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5994451	EMID1	cis	parietal	SCAN
rs5994451	C22orf31	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32302000-32324800	Weak transcription	Fetal Thymus	thymus
2	chr22:32304400-32339600	Weak transcription	Brain Germinal Matrix	brain
3	chr22:32315000-32324800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr22:32319000-32325200	Weak transcription	Brain Anterior Caudate	brain
5	chr22:32319600-32324800	Weak transcription	K562	blood
6	chr22:32319600-32338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:32320000-32325000	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:32320400-32324800	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:32322000-32323600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:32322400-32323800	Weak transcription	Brain Angular Gyrus	brain
11	chr22:32323000-32323600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:32323000-32325000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32323000-32325000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:32323000-32325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:32323400-32328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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