Variant report

Variant	rs713792
Chromosome Location	chr22:30578150-30578151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12169403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9614164	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv524628	chr22:30575163-30581722	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs713792	ATP13A1	trans	brain	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30572800-30579000	Weak transcription	Fetal Brain Male	brain
2	chr22:30573600-30579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:30574400-30583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:30574800-30579400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:30575000-30579800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30575000-30583600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:30575200-30578400	Weak transcription	Fetal Thymus	thymus
8	chr22:30575200-30580000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30575400-30579000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30575400-30584400	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:30575400-30584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:30575600-30579800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr22:30575600-30583400	Weak transcription	Primary T cells from cord blood	blood
14	chr22:30575600-30584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr22:30575800-30578400	Weak transcription	Dnd41	blood
16	chr22:30576200-30588000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr22:30576400-30579800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr22:30577200-30578600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr22:30577200-30580200	Enhancers	HepG2	liver
20	chr22:30577400-30578600	Enhancers	Duodenum Mucosa	Duodenum
21	chr22:30577400-30578600	Enhancers	Stomach Mucosa	stomach
22	chr22:30577400-30578800	Enhancers	Fetal Intestine Small	intestine
23	chr22:30577600-30578200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:30577600-30578400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr22:30577600-30578600	Bivalent Enhancer	HUVEC	blood vessel
26	chr22:30577600-30578800	Enhancers	K562	blood
27	chr22:30577600-30579000	Enhancers	Fetal Intestine Large	intestine
28	chr22:30577600-30580200	Enhancers	Fetal Lung	lung
29	chr22:30577600-30589600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:30577600-30591400	Enhancers	A549	lung
31	chr22:30577800-30578600	Enhancers	Small Intestine	intestine
32	chr22:30578000-30578200	Enhancers	Spleen	Spleen
33	chr22:30578000-30579000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr22:30578000-30579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:30578000-30585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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