Variant report

Variant	rs2189810
Chromosome Location	chr14:72984879-72984880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72983158..72985383-chr14:73371359..73373304,2	MCF-7	breast:
2	chr14:72969545..72972507-chr14:72983434..72985736,2	K562	blood:
3	chr14:72970815..72972507-chr14:72982309..72984934,2	K562	blood:
4	chr14:72982096..72985745-chr14:73392472..73395058,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119599	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10147108	0.89[JPT][hapmap]
rs11158960	0.84[CHB][hapmap];0.87[CHD][hapmap]
rs11629448	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs12586412	0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12885387	0.84[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023957	0.84[CHB][hapmap];0.87[CHD][hapmap]
rs4419001	0.89[JPT][hapmap]
rs4617785	0.89[JPT][hapmap]
rs5008274	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs7144114	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs7161176	0.87[CHD][hapmap];0.89[JPT][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2189810	COQ6	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72981200-72986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:72981400-72985800	Weak transcription	Fetal Heart	heart
4	chr14:72982400-72985000	Enhancers	GM12878-XiMat	blood
5	chr14:72982600-72985200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:72982600-72985400	Enhancers	NH-A	brain
7	chr14:72982800-72987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:72983000-72985000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:72983000-72985000	Enhancers	NHLF	lung
10	chr14:72983000-72985600	Enhancers	HSMM	muscle
11	chr14:72983200-72985200	Enhancers	Adipose Nuclei	Adipose
12	chr14:72983200-72985400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr14:72983200-72986600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:72983200-72986800	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:72983400-72985000	Enhancers	Primary B cells from cord blood	blood
16	chr14:72983400-72985000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:72983400-72985200	Enhancers	Primary T cells from cord blood	blood
18	chr14:72983400-72985200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:72983400-72985200	Enhancers	Fetal Muscle Leg	muscle
20	chr14:72983400-72985400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:72983400-72985400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:72983400-72985400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:72983400-72985600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:72983400-72986600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:72983400-72986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:72983400-72986800	Enhancers	Dnd41	blood
27	chr14:72983400-72987200	Enhancers	Fetal Thymus	thymus
28	chr14:72983600-72985600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:72983600-72987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
31	chr14:72983800-72985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:72983800-72985600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:72983800-72986600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:72983800-72987000	Enhancers	Primary hematopoietic stem cells	blood
35	chr14:72984000-72985000	Enhancers	Fetal Muscle Trunk	muscle
36	chr14:72984000-72985400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:72984000-72985800	Enhancers	Spleen	Spleen
38	chr14:72984000-72986400	Enhancers	Thymus	Thymus
39	chr14:72984000-72994800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:72984200-72985000	Enhancers	NHDF-Ad	bronchial
41	chr14:72984200-72985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:72984200-72986600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:72984200-72990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:72984200-72994400	Weak transcription	Fetal Stomach	stomach
45	chr14:72984400-72985000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:72984400-72985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:72984400-72986200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:72984600-72985600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:72984600-72988800	Weak transcription	Fetal Lung	lung

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