Variant report

Variant	rs1894426
Chromosome Location	chr22:34226068-34226069
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	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12169279	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12169322	0.82[EUR][1000 genomes]
rs12169356	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13433559	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819669	0.86[CHD][hapmap];0.90[ASN][1000 genomes]
rs3819673	0.90[ASN][1000 genomes]
rs4821190	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62227813	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62227814	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs737726	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7410607	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621781	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621786	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs9621787	0.94[CEU][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9621788	0.94[CEU][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9621789	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9621790	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9621791	0.82[EUR][1000 genomes]
rs9621792	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	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
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1894426	CABP7	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34213000-34228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:34216800-34227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:34217000-34226200	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:34219800-34226400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:34219800-34227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34219800-34228400	Weak transcription	Esophagus	oesophagus
9	chr22:34219800-34231800	Weak transcription	Aorta	Aorta
10	chr22:34220000-34227800	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:34220000-34228000	Weak transcription	Stomach Mucosa	stomach
12	chr22:34220000-34228400	Weak transcription	Brain Substantia Nigra	brain
13	chr22:34220600-34226200	Weak transcription	Gastric	stomach
14	chr22:34220600-34227800	Weak transcription	Ovary	ovary
15	chr22:34221000-34227800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:34221200-34231400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:34221600-34228600	Weak transcription	Liver	Liver
18	chr22:34221800-34228400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:34222000-34226600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:34222000-34227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:34222200-34226200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr22:34222200-34227800	Weak transcription	Brain Angular Gyrus	brain
23	chr22:34222200-34231200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:34222400-34226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:34224200-34228400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr22:34224400-34226400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr22:34224400-34227600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:34224800-34229600	Enhancers	Fetal Heart	heart
29	chr22:34224800-34232000	Weak transcription	Fetal Intestine Small	intestine
30	chr22:34225000-34229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:34225200-34226200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:34225200-34228200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:34225200-34228800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr22:34225200-34229000	Enhancers	Left Ventricle	heart
35	chr22:34225200-34229200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr22:34225400-34226600	Enhancers	HSMMtube	muscle
37	chr22:34225600-34226200	Enhancers	Psoas Muscle	Psoas
38	chr22:34225600-34226400	Enhancers	Fetal Muscle Leg	muscle
39	chr22:34225600-34228000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:34225600-34228400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:34225600-34228600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:34225600-34228600	Enhancers	Spleen	Spleen
43	chr22:34225600-34229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:34225600-34229000	Enhancers	Lung	lung
45	chr22:34225800-34226200	Enhancers	Fetal Brain Male	brain
46	chr22:34225800-34226200	Enhancers	Fetal Muscle Trunk	muscle
47	chr22:34225800-34226200	Enhancers	HSMM	muscle
48	chr22:34225800-34226600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr22:34225800-34226600	Enhancers	Pancreas	Pancrea
50	chr22:34225800-34226800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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