Variant report

Variant	rs7495052
Chromosome Location	chr15:92552029-92552030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10468145	0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12593984	0.94[JPT][hapmap]
rs12903900	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12904266	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12905905	0.83[JPT][hapmap]
rs12905912	0.91[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12906289	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs12908689	0.87[ASN][1000 genomes]
rs12912272	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12912997	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1983351	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62011574	0.84[ASN][1000 genomes]
rs6496886	0.89[ASN][1000 genomes]
rs7178378	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs8040010	0.94[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv904498	chr15:92545284-92558234	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Inattentive symptoms	18821565	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7495052	VPS33B	cis	parietal	SCAN
rs7495052	ZNF710	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92498200-92555000	Weak transcription	Gastric	stomach
2	chr15:92538200-92554800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:92543000-92552400	Weak transcription	Pancreas	Pancrea
4	chr15:92544200-92554800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:92544400-92554800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:92544800-92552400	Weak transcription	Spleen	Spleen
7	chr15:92544800-92554200	Weak transcription	Fetal Brain Female	brain
8	chr15:92544800-92554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:92545400-92554800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:92545600-92552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:92547000-92553400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:92547400-92552400	Weak transcription	Psoas Muscle	Psoas
13	chr15:92547400-92553000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:92547400-92553000	Weak transcription	Right Ventricle	heart
15	chr15:92547600-92552400	Weak transcription	Lung	lung
16	chr15:92547600-92552600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:92547600-92555000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:92548200-92554200	Weak transcription	Primary T cells from cord blood	blood
19	chr15:92549000-92552400	Weak transcription	Esophagus	oesophagus
20	chr15:92549000-92554800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:92549200-92554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:92549200-92554600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:92549200-92555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:92549400-92552400	Weak transcription	Right Atrium	heart
25	chr15:92549400-92554800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:92549600-92553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:92549600-92554200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:92549600-92554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:92549600-92555400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:92549800-92553400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:92549800-92554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:92549800-92555000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:92550200-92553400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:92550200-92553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:92550400-92556200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:92550600-92555000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:92550800-92552200	Weak transcription	Brain Anterior Caudate	brain
38	chr15:92550800-92552800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:92550800-92553400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:92550800-92562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:92551000-92555000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:92551200-92553000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:92551200-92556400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr15:92551200-92557400	Enhancers	Ovary	ovary
45	chr15:92551400-92553000	Enhancers	Fetal Heart	heart
46	chr15:92551400-92553200	Enhancers	Aorta	Aorta
47	chr15:92551400-92553200	Enhancers	Brain Angular Gyrus	brain
48	chr15:92551400-92555000	Enhancers	Brain Hippocampus Middle	brain
49	chr15:92551600-92552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:92551600-92552400	Enhancers	Brain Substantia Nigra	brain

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