Variant report

Variant	rs7290176
Chromosome Location	chr22:34274556-34274557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34270428..34272649-chr22:34273804..34275941,2	MCF-7	breast:
2	chr22:34264153..34267717-chr22:34273021..34274940,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2157113	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749687	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754734	0.94[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7290176	UQCR10	cis	parietal	SCAN
rs7290176	LARGE	cis	cerebellum	SCAN
rs7290176	EIF4ENIF1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34264800-34279400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:34269800-34275400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:34269800-34279600	Weak transcription	Esophagus	oesophagus
4	chr22:34270000-34279000	Weak transcription	Pancreas	Pancrea
5	chr22:34270000-34279000	Weak transcription	GM12878-XiMat	blood
6	chr22:34270200-34278800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:34270200-34285600	Weak transcription	Aorta	Aorta
8	chr22:34270400-34278400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:34271000-34279400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:34271600-34279200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:34271600-34287400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:34271800-34277800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:34271800-34279400	Weak transcription	Gastric	stomach
14	chr22:34272000-34275600	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:34272000-34279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:34272000-34280400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:34272200-34275800	Weak transcription	Right Atrium	heart
18	chr22:34272200-34279000	Weak transcription	Spleen	Spleen
19	chr22:34272200-34279800	Weak transcription	Brain Anterior Caudate	brain
20	chr22:34272400-34274600	Weak transcription	Fetal Brain Female	brain
21	chr22:34272400-34276000	Weak transcription	Fetal Brain Male	brain
22	chr22:34272400-34276400	Weak transcription	Left Ventricle	heart
23	chr22:34272400-34277600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:34272400-34278800	Weak transcription	Right Ventricle	heart
25	chr22:34272600-34278800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:34272600-34279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:34273200-34278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:34273200-34279400	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:34273200-34279400	Weak transcription	Psoas Muscle	Psoas
30	chr22:34273200-34292200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:34273400-34274600	Weak transcription	Fetal Heart	heart
32	chr22:34273400-34277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:34273400-34278200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:34273400-34278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:34273600-34276000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:34273600-34277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:34273600-34278400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:34273600-34278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:34274400-34274800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:34274400-34275800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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