Variant report

Variant	rs9380276
Chromosome Location	chr6:11427973-11427974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11427951..11430915-chr6:11435068..11437007,2	MCF-7	breast:
2	chr6:11231660..11236076-chr6:11425416..11429561,7	MCF-7	breast:
3	chr6:11420390..11423840-chr6:11426656..11428860,3	MCF-7	breast:
4	chr6:11424121..11426419-chr6:11426537..11429403,3	MCF-7	breast:
5	chr6:11230046..11231611-chr6:11426271..11428690,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4476816	0.87[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711288	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713491	0.82[GIH][hapmap]
rs6919269	0.86[GIH][hapmap]
rs9394081	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3340894	chr6:11425466-11429864	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380276	C6orf218	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11423200-11431800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:11423400-11430200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:11423400-11430400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:11423400-11430600	Enhancers	NHDF-Ad	bronchial
5	chr6:11423400-11434200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:11423600-11430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:11423600-11432200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:11423600-11435200	Enhancers	HepG2	liver
9	chr6:11423800-11435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:11424000-11428600	Enhancers	Lung	lung
11	chr6:11424000-11429600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:11424000-11429600	Enhancers	Stomach Mucosa	stomach
13	chr6:11424000-11430400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:11424600-11430600	Enhancers	Placenta	Placenta
15	chr6:11424600-11430800	Enhancers	Osteobl	bone
16	chr6:11424800-11428000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:11424800-11430800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:11425000-11428200	Weak transcription	GM12878-XiMat	blood
19	chr6:11425000-11432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:11425200-11429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:11425200-11429800	Enhancers	HUVEC	blood vessel
22	chr6:11425600-11430600	Enhancers	NHLF	lung
23	chr6:11425600-11436200	Enhancers	Adipose Nuclei	Adipose
24	chr6:11425800-11428000	Enhancers	Ovary	ovary
25	chr6:11425800-11430600	Enhancers	HSMMtube	muscle
26	chr6:11426200-11429200	Weak transcription	HMEC	breast
27	chr6:11426400-11428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:11426400-11428600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:11426400-11429400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:11426400-11431800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:11426600-11428000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:11426600-11428600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:11426800-11428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:11426800-11428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:11426800-11429200	Enhancers	Fetal Stomach	stomach
36	chr6:11427000-11429000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:11427000-11430200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:11427000-11432800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:11427200-11428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:11427400-11428000	Enhancers	Gastric	stomach
41	chr6:11427400-11428000	Genic enhancers	Right Atrium	heart
42	chr6:11427400-11428600	Enhancers	Pancreas	Pancrea
43	chr6:11427400-11429400	Enhancers	Right Ventricle	heart
44	chr6:11427400-11433400	Enhancers	NH-A	brain
45	chr6:11427600-11428000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:11427600-11428000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:11427600-11428000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:11427600-11428000	Enhancers	Esophagus	oesophagus
49	chr6:11427600-11428000	Flanking Active TSS	Fetal Kidney	kidney
50	chr6:11427600-11428000	Flanking Active TSS	Fetal Lung	lung

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