Variant report

Variant	rs6495276
Chromosome Location	chr15:78446098-78446099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78445352..78447545-chr15:78452643..78454285,2	K562	blood:
2	chr15:78445643..78447208-chr15:78463043..78465753,2	MCF-7	breast:
3	chr15:78437153..78440009-chr15:78444178..78446804,3	MCF-7	breast:
4	chr15:78440356..78444633-chr15:78445807..78449726,8	K562	blood:
5	chr15:78440387..78445053-chr15:78445574..78449184,7	K562	blood:

Variant related genes	Relation type
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11638921	0.83[AMR][1000 genomes]
rs11855354	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12438666	0.82[ASN][1000 genomes]
rs12903696	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12904700	0.83[AMR][1000 genomes]
rs12915990	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1982241	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1982242	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2304824	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3816253	0.83[AMR][1000 genomes]
rs6495275	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7172176	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8032618	0.88[AMR][1000 genomes];0.85[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6495276	IDH3A	cis	Heart Left Ventricle	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78442600-78447400	Weak transcription	Aorta	Aorta
2	chr15:78442600-78448000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:78442600-78451200	Weak transcription	Lung	lung
4	chr15:78442600-78451400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:78442600-78458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:78442800-78447200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:78442800-78448000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:78442800-78448000	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:78442800-78448600	Weak transcription	Placenta	Placenta
10	chr15:78442800-78448800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:78442800-78449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:78442800-78450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:78442800-78450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:78442800-78451800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:78442800-78451800	Weak transcription	Ovary	ovary
16	chr15:78442800-78452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:78442800-78463400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:78442800-78465600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:78443000-78446800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:78443000-78450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:78443000-78450000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:78443000-78450200	Weak transcription	Fetal Stomach	stomach
23	chr15:78443000-78451600	Weak transcription	NH-A	brain
24	chr15:78443000-78452200	Weak transcription	HUVEC	blood vessel
25	chr15:78443200-78447000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:78443200-78447200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:78443200-78447200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:78443200-78451200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:78443200-78451400	Weak transcription	Fetal Brain Female	brain
30	chr15:78443200-78451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:78443200-78451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:78443400-78446800	Weak transcription	Primary B cells from cord blood	blood
33	chr15:78443400-78447200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:78443400-78447400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:78443400-78447400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:78443400-78447400	Weak transcription	Fetal Lung	lung
37	chr15:78443400-78447400	Weak transcription	A549	lung
38	chr15:78443400-78447600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:78443400-78447600	Weak transcription	HMEC	breast
40	chr15:78443400-78448000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:78443400-78448400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:78443400-78449400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:78443400-78450200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:78443400-78452200	Weak transcription	Fetal Brain Male	brain
45	chr15:78443400-78452200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:78443400-78453400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:78443400-78454000	Weak transcription	Fetal Kidney	kidney
48	chr15:78443400-78458000	Weak transcription	Stomach Mucosa	stomach
49	chr15:78443600-78446600	Weak transcription	Fetal Intestine Small	intestine
50	chr15:78443600-78446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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