Variant report

Variant	rs11703779
Chromosome Location	chr22:32322384-32322385
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 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:

No data

No data

No data

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000252909	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128245	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];0.90[MKK][hapmap]
rs11703587	0.87[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2015580	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820994	0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820997	0.87[CEU][hapmap];0.80[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820998	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753817	0.87[CEU][hapmap];0.83[ASN][1000 genomes]
rs5753818	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753820	0.82[ASN][1000 genomes]
rs5994449	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5994451	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]
rs5998173	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5998176	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619241	0.82[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
rs11703779	C22orf31	cis	cerebellum	SCAN
rs11703779	EMID1	cis	parietal	SCAN

Chromatin state (count:16 , 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	chr22:32322200-32322400	Enhancers	Brain Angular Gyrus	brain

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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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