Variant report

Variant	rs8032618
Chromosome Location	chr15:78452003-78452004
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	chr15:78440859..78443747-chr15:78450376..78455479,5	K562	blood:
2	chr15:78448588..78451426-chr15:78451804..78454242,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11072738	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs11855354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12903696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12915990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816253	0.80[MEX][hapmap]
rs6495275	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495276	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7172176	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8034946	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8035724	0.82[MKK][hapmap]
rs9920103	0.89[CEU][hapmap];0.93[LWK][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs9972613	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8032618	IDH3A	cis	parietal	SCAN
rs8032618	IDH3A	cis	cerebellum	SCAN
rs8032618	IDH3A	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78442600-78458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78442800-78452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78442800-78463400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:78442800-78465600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:78443000-78452200	Weak transcription	HUVEC	blood vessel
6	chr15:78443400-78452200	Weak transcription	Fetal Brain Male	brain
7	chr15:78443400-78452200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:78443400-78453400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:78443400-78454000	Weak transcription	Fetal Kidney	kidney
10	chr15:78443400-78458000	Weak transcription	Stomach Mucosa	stomach
11	chr15:78443600-78452200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:78443600-78452200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:78443600-78452400	Weak transcription	Brain Germinal Matrix	brain
14	chr15:78443600-78453600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:78443600-78453600	Weak transcription	HepG2	liver
16	chr15:78443600-78453600	Weak transcription	K562	blood
17	chr15:78443600-78453600	Weak transcription	NHLF	lung
18	chr15:78443800-78452200	Weak transcription	Gastric	stomach
19	chr15:78444200-78453600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:78445800-78453600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr15:78445800-78464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78446600-78465200	Strong transcription	Fetal Intestine Large	intestine
23	chr15:78446800-78466000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:78447000-78475200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:78447200-78459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:78447400-78459200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:78447600-78459600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:78447600-78464400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:78447800-78459000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:78447800-78459600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:78448000-78453800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:78448000-78459800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr15:78448000-78463000	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:78448000-78464200	Strong transcription	Liver	Liver
35	chr15:78448000-78465200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:78448000-78465800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr15:78448200-78453600	Weak transcription	HSMM	muscle
38	chr15:78448400-78461000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr15:78448400-78461000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:78448600-78452200	Weak transcription	Brain Angular Gyrus	brain
41	chr15:78448600-78452200	Weak transcription	HSMMtube	muscle
42	chr15:78448600-78452400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:78448600-78465400	Strong transcription	Placenta	Placenta
44	chr15:78448800-78454000	Weak transcription	Psoas Muscle	Psoas
45	chr15:78448800-78463000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:78448800-78464200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:78448800-78466600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr15:78449000-78467800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:78449200-78458400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr15:78449200-78458800	Strong transcription	GM12878-XiMat	blood

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