Variant report

Variant	rs7014685
Chromosome Location	chr8:103050664-103050665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103049817..103051629-chr8:103058338..103060575,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10098918	0.84[JPT][hapmap]
rs10113490	0.96[AFR][1000 genomes]
rs10113810	0.82[YRI][hapmap]
rs1111908	1.00[ASW][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1111909	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1111910	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11780799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12334499	0.89[JPT][hapmap]
rs16868941	0.89[JPT][hapmap]
rs17499067	0.89[JPT][hapmap]
rs1893532	1.00[ASW][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.85[AFR][1000 genomes]
rs1893533	1.00[ASW][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1893534	0.89[JPT][hapmap]
rs2032151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2186680	0.88[JPT][hapmap]
rs28478554	0.92[ASN][1000 genomes]
rs56281612	0.89[ASN][1000 genomes]
rs61093256	0.91[ASN][1000 genomes]
rs6468810	0.96[AFR][1000 genomes]
rs6468812	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984801	1.00[ASW][hapmap];0.96[LWK][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6987069	0.87[AFR][1000 genomes]
rs7001158	0.89[JPT][hapmap]
rs7001757	1.00[ASW][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs7001888	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7002154	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7007251	0.88[ASW][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs7017181	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018404	0.83[YRI][hapmap]
rs7831664	1.00[ASW][hapmap];0.96[LWK][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9886663	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891236	chr8:103039917-103070301	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7014685	COX6C	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103047000-103051000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:103047200-103054000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:103047800-103053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:103049400-103051200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:103049400-103051400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:103049600-103050800	Enhancers	HSMM	muscle
7	chr8:103049600-103051200	Enhancers	NH-A	brain
8	chr8:103049600-103051200	Enhancers	Osteobl	bone
9	chr8:103049800-103050800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:103049800-103051000	Enhancers	Placenta	Placenta
11	chr8:103049800-103051200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:103049800-103051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:103049800-103051400	Enhancers	Adipose Nuclei	Adipose
14	chr8:103049800-103051400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:103049800-103051400	Enhancers	NHDF-Ad	bronchial
16	chr8:103050000-103050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:103050000-103051200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:103050000-103051400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:103050200-103050800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:103050200-103050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:103050200-103050800	Enhancers	Brain Angular Gyrus	brain
22	chr8:103050200-103050800	Enhancers	Brain Anterior Caudate	brain
23	chr8:103050200-103050800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:103050200-103050800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:103050200-103050800	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:103050200-103050800	Enhancers	HSMMtube	muscle
27	chr8:103050200-103051000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:103050200-103051000	Enhancers	Colon Smooth Muscle	Colon
29	chr8:103050200-103051000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:103050200-103051000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:103050200-103051200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:103050200-103051200	Enhancers	Aorta	Aorta
33	chr8:103050200-103051200	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:103050200-103051400	Enhancers	Fetal Brain Female	brain
35	chr8:103050200-103051400	Enhancers	Psoas Muscle	Psoas
36	chr8:103050200-103051400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:103050200-103051600	Enhancers	Fetal Brain Male	brain
38	chr8:103050200-103051600	Enhancers	Fetal Heart	heart
39	chr8:103050400-103050800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:103050400-103050800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:103050400-103050800	Enhancers	Brain Hippocampus Middle	brain
42	chr8:103050400-103050800	Enhancers	Brain Substantia Nigra	brain
43	chr8:103050400-103050800	Enhancers	Lung	lung
44	chr8:103050400-103051000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:103050400-103051000	Enhancers	Right Atrium	heart
46	chr8:103050400-103051200	Enhancers	Brain Germinal Matrix	brain
47	chr8:103050400-103051400	Enhancers	Left Ventricle	heart
48	chr8:103050400-103051400	Enhancers	Right Ventricle	heart
49	chr8:103050400-103051600	Enhancers	Fetal Muscle Leg	muscle
50	chr8:103050400-103052200	Enhancers	Ovary	ovary

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