Variant report

Variant	rs17806754
Chromosome Location	chr22:34087553-34087554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17733474	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17733539	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17733991	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285897	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs73170515	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73170522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170527	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv934161	chr22:33979015-34118621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1056845	chr22:34066401-34102719	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17806754	EIF4ENIF1	cis	cerebellum	SCAN
rs17806754	RFPL3	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34063200-34096000	Weak transcription	GM12878-XiMat	blood
2	chr22:34063600-34093600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:34063800-34093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34071000-34096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:34071800-34096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:34075000-34095400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:34075000-34095600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:34075000-34096800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:34075000-34100400	Weak transcription	Brain Anterior Caudate	brain
10	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
11	chr22:34077600-34092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:34078400-34096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:34080800-34096600	Weak transcription	Fetal Intestine Small	intestine
14	chr22:34081200-34090000	Weak transcription	Aorta	Aorta
15	chr22:34081200-34096200	Weak transcription	Ovary	ovary
16	chr22:34081600-34096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:34081800-34098800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:34082200-34095000	Weak transcription	Gastric	stomach
19	chr22:34082200-34096800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:34082800-34096200	Weak transcription	Fetal Brain Female	brain
21	chr22:34084000-34094600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:34085200-34093600	Weak transcription	Fetal Stomach	stomach
23	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:34086400-34087800	Enhancers	Left Ventricle	heart
25	chr22:34086600-34087800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:34086800-34087600	Enhancers	Right Ventricle	heart
27	chr22:34086800-34096800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:34087000-34087600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:34087000-34087800	Enhancers	Fetal Heart	heart
30	chr22:34087000-34096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:34087000-34109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:34087400-34087600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr22:34087400-34087600	Enhancers	Brain Hippocampus Middle	brain
34	chr22:34087400-34087800	Enhancers	H9 Cell Line	embryonic stem cell

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