Variant report

Variant	rs7178378
Chromosome Location	chr15:92556804-92556805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10468145	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12593984	1.00[JPT][hapmap]
rs12899673	0.83[JPT][hapmap]
rs12903900	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12904266	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12905912	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12908689	0.87[ASN][1000 genomes]
rs12912272	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12912997	0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12913189	0.83[JPT][hapmap]
rs1983351	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs62011574	0.90[ASN][1000 genomes]
rs6496886	0.92[ASN][1000 genomes]
rs7166185	0.83[JPT][hapmap]
rs7181178	0.83[JPT][hapmap]
rs7495052	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs8040010	1.00[JPT][hapmap];0.84[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7178378	TTLL13	cis	parietal	SCAN
rs7178378	IDH2	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92550800-92562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:92551200-92557400	Enhancers	Ovary	ovary
3	chr15:92552200-92559000	Enhancers	Left Ventricle	heart
4	chr15:92552800-92561800	Weak transcription	Psoas Muscle	Psoas
5	chr15:92554000-92559200	Enhancers	Brain Substantia Nigra	brain
6	chr15:92554200-92559200	Enhancers	Brain Angular Gyrus	brain
7	chr15:92554200-92566200	Enhancers	Right Atrium	heart
8	chr15:92554800-92557200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:92554800-92557600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:92555400-92557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:92555400-92564200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:92555600-92557000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:92555600-92557200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:92555600-92557400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:92555600-92557400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:92555600-92557400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:92555600-92558400	Enhancers	Brain Anterior Caudate	brain
18	chr15:92555600-92563200	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:92555600-92563200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:92555600-92564000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:92555600-92565600	Weak transcription	Gastric	stomach
22	chr15:92555600-92570600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:92555600-92576200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:92555800-92557000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:92555800-92557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:92555800-92557200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:92555800-92557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:92555800-92557400	Weak transcription	Esophagus	oesophagus
29	chr15:92555800-92557600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:92555800-92558600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:92555800-92559000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr15:92555800-92560600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:92555800-92564200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:92556000-92557000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:92556000-92557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:92556000-92561400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:92556000-92564200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:92556400-92557400	Weak transcription	Fetal Heart	heart
39	chr15:92556400-92557400	Weak transcription	HMEC	breast
40	chr15:92556400-92557600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:92556600-92557000	Weak transcription	Aorta	Aorta
42	chr15:92556600-92557400	Weak transcription	Lung	lung
43	chr15:92556600-92558000	Weak transcription	Spleen	Spleen
44	chr15:92556800-92557200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:92556800-92558000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:92556800-92558000	Weak transcription	Right Ventricle	heart
47	chr15:92556800-92558600	Enhancers	Primary hematopoietic stem cells	blood
48	chr15:92556800-92565000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:92556800-92565200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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