Variant report

Variant	rs4821186
Chromosome Location	chr22:34217224-34217225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1018786	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs1018787	0.92[ASN][1000 genomes]
rs11912964	0.83[CHD][hapmap]
rs1573654	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17735056	0.81[CHD][hapmap]
rs2157089	0.89[JPT][hapmap]
rs2227023	0.87[LWK][hapmap]
rs2267287	0.83[CHD][hapmap]
rs4820114	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749669	0.92[ASN][1000 genomes]
rs5754679	0.87[LWK][hapmap]
rs5754682	0.87[LWK][hapmap]
rs5754705	0.81[ASW][hapmap]
rs5999111	0.83[CHD][hapmap]
rs718819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
15	nsv526550	chr22:34204930-34221959	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1056001	chr22:34206144-34221959	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4821186	NF2	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34208200-34219600	Weak transcription	Aorta	Aorta
3	chr22:34208600-34217400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:34208800-34217600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:34208800-34219600	Weak transcription	Pancreas	Pancrea
6	chr22:34212600-34221600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:34213000-34228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:34213400-34225800	Weak transcription	Fetal Brain Male	brain
10	chr22:34213600-34221600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:34215200-34225800	Weak transcription	Fetal Stomach	stomach
12	chr22:34216000-34218400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:34216600-34217800	Enhancers	Right Ventricle	heart
14	chr22:34216600-34222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr22:34216800-34217400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:34216800-34217400	Enhancers	Left Ventricle	heart
17	chr22:34216800-34217600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:34216800-34217600	Enhancers	Gastric	stomach
19	chr22:34216800-34218200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr22:34216800-34218200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:34216800-34219000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:34216800-34220800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr22:34216800-34227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:34217000-34217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:34217000-34217400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr22:34217000-34217600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:34217000-34218000	Enhancers	Fetal Heart	heart
28	chr22:34217000-34218200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr22:34217000-34219000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr22:34217000-34219200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:34217000-34219600	Weak transcription	Spleen	Spleen
32	chr22:34217000-34226200	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:34217200-34217400	Enhancers	Psoas Muscle	Psoas
34	chr22:34217200-34217400	Enhancers	HSMMtube	muscle
35	chr22:34217200-34217800	Enhancers	Colon Smooth Muscle	Colon
36	chr22:34217200-34217800	Enhancers	Fetal Lung	lung
37	chr22:34217200-34217800	Enhancers	Rectal Smooth Muscle	rectum
38	chr22:34217200-34217800	Enhancers	NHLF	lung
39	chr22:34217200-34218200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr22:34217200-34218200	Weak transcription	Right Atrium	heart
41	chr22:34217200-34218400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr22:34217200-34219200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:34217200-34219400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr22:34217200-34219600	Weak transcription	Esophagus	oesophagus
45	chr22:34217200-34219600	Weak transcription	Ovary	ovary

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