Variant report

Variant	rs10519181
Chromosome Location	chr15:78288975-78288976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1004855	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10444863	0.84[CEU][hapmap]
rs11072716	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11631578	0.95[CHB][hapmap]
rs11634607	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs12148365	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs12591418	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs12593545	1.00[ASW][hapmap];0.84[CEU][hapmap];0.86[MEX][hapmap]
rs12594823	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12901812	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs12911332	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12916362	0.91[CHB][hapmap]
rs1348257	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs1442293	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs16969422	0.84[CEU][hapmap]
rs1837913	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs1992470	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2028546	0.86[CHB][hapmap]
rs2044099	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241885	0.91[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2867985	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs3784326	1.00[ASW][hapmap]
rs3803380	0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[MKK][hapmap]
rs4395040	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4886553	0.95[CHB][hapmap]
rs4886554	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs4886555	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4886989	0.84[CEU][hapmap]
rs4886992	1.00[ASW][hapmap];0.84[CEU][hapmap];0.86[MEX][hapmap]
rs4886996	0.95[CHB][hapmap]
rs4886999	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs4887000	0.91[CHB][hapmap]
rs55704745	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56317829	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57220134	0.83[EUR][1000 genomes]
rs7170746	0.95[CHB][hapmap]
rs7173128	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs7173473	0.85[ASN][1000 genomes]
rs7174489	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs72732535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8030713	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8030873	0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs872926	0.84[CEU][hapmap]
rs894301	1.00[ASW][hapmap];0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10519181	CCDC33	cis	cerebellum	SCAN
rs10519181	CLK3	cis	cerebellum	SCAN
rs10519181	IREB2	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78279400-78289800	Enhancers	Ovary	ovary
2	chr15:78279800-78289600	Weak transcription	Fetal Brain Female	brain
3	chr15:78280000-78290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:78280200-78295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78281000-78289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:78282200-78289600	Enhancers	NHLF	lung
7	chr15:78283400-78289000	Weak transcription	Primary T cells from cord blood	blood
8	chr15:78283400-78290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:78283400-78291200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:78283400-78292800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:78283400-78293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:78283400-78296400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:78283400-78305000	Weak transcription	K562	blood
14	chr15:78283600-78289800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:78283600-78289800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:78283600-78294800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:78283600-78300800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:78283800-78289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:78283800-78290800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:78283800-78301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:78284200-78290000	Genic enhancers	Fetal Stomach	stomach
22	chr15:78284400-78289800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:78284600-78310200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:78284800-78289400	Weak transcription	Dnd41	blood
25	chr15:78284800-78296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:78285000-78289800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:78285000-78289800	Weak transcription	HepG2	liver
28	chr15:78285400-78290000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:78285400-78290000	Genic enhancers	Fetal Thymus	thymus
30	chr15:78285400-78295800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:78285400-78304400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:78285600-78289800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:78285800-78299200	Strong transcription	Fetal Intestine Large	intestine
34	chr15:78285800-78309600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:78286000-78310400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:78286400-78289400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:78286400-78289800	Weak transcription	Aorta	Aorta
38	chr15:78286400-78289800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr15:78286400-78289800	Enhancers	HSMM	muscle
40	chr15:78286400-78292200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:78286400-78295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:78286600-78289200	Weak transcription	Gastric	stomach
43	chr15:78286600-78293400	Weak transcription	Brain Germinal Matrix	brain
44	chr15:78286600-78293400	Weak transcription	Small Intestine	intestine
45	chr15:78286600-78296400	Strong transcription	Fetal Intestine Small	intestine
46	chr15:78286800-78289000	Enhancers	NHEK	skin
47	chr15:78286800-78289400	Weak transcription	Esophagus	oesophagus
48	chr15:78286800-78289600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr15:78286800-78295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:78287000-78289200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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