Variant report

Variant	rs11703587
Chromosome Location	chr22:32322414-32322415
allele	A/C
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	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:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11703779	0.87[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs16989609	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs2015580	0.82[CEU][hapmap]
rs3213524	0.81[LWK][hapmap];0.88[YRI][hapmap]
rs3788436	0.81[LWK][hapmap];0.88[YRI][hapmap]
rs4820994	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4820996	0.91[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4820997	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820998	0.83[ASN][1000 genomes]
rs4820999	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749339	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753816	0.87[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753818	0.91[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753820	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994449	0.81[JPT][hapmap]
rs5994451	0.91[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs5998168	0.88[ASN][1000 genomes]
rs5998170	0.89[JPT][hapmap];0.88[YRI][hapmap]
rs5998172	0.89[JPT][hapmap]
rs5998176	0.83[ASN][1000 genomes]
rs9619241	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11703587	C22orf31	cis	cerebellum	SCAN
rs11703587	EMID1	cis	parietal	SCAN
rs11703587	ZNRF3	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32302000-32324800	Weak transcription	Fetal Thymus	thymus
2	chr22:32302400-32322600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:32304400-32339600	Weak transcription	Brain Germinal Matrix	brain
4	chr22:32315000-32324800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:32319000-32325200	Weak transcription	Brain Anterior Caudate	brain
6	chr22:32319600-32324800	Weak transcription	K562	blood
7	chr22:32319600-32338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:32320000-32325000	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:32320400-32324800	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:32321200-32323000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:32321600-32323400	Enhancers	Fetal Brain Female	brain
12	chr22:32321800-32323400	Enhancers	Fetal Brain Male	brain
13	chr22:32322000-32323000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:32322000-32323000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:32322000-32323600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:32322400-32322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:32322400-32323800	Weak transcription	Brain Angular Gyrus	brain

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