Variant report

Variant	rs9380605
Chromosome Location	chr6:36794065-36794066
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	chr6:36785208..36787449-chr6:36793356..36796337,2	K562	blood:
2	chr6:36792882..36794850-chr6:36817375..36819702,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11751790	0.80[JPT][hapmap]
rs11751844	0.89[JPT][hapmap]
rs11758807	0.88[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2071822	0.80[JPT][hapmap]
rs236361	0.89[CEU][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.84[EUR][1000 genomes]
rs236381	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs28656041	0.84[ASN][1000 genomes]
rs28673271	0.86[ASN][1000 genomes]
rs4711470	0.86[ASN][1000 genomes]
rs60097056	0.87[ASN][1000 genomes]
rs7745099	0.83[JPT][hapmap]
rs9368961	0.84[ASN][1000 genomes]
rs9368963	0.86[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9368964	0.80[ASN][1000 genomes]
rs9380607	0.88[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9394387	0.94[JPT][hapmap];0.86[ASN][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5261	chr6:36754545-36798824	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380605	C6orf89	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36777000-36797800	Weak transcription	Pancreas	Pancrea
2	chr6:36779400-36797600	Weak transcription	Fetal Brain Female	brain
3	chr6:36781600-36794200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:36787400-36796400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:36788400-36802400	Weak transcription	Fetal Kidney	kidney
6	chr6:36788800-36797200	Enhancers	Right Atrium	heart
7	chr6:36789200-36796400	Enhancers	Left Ventricle	heart
8	chr6:36789400-36794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:36789400-36794400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:36789400-36796000	Enhancers	K562	blood
11	chr6:36789600-36794600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:36789800-36794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:36789800-36794200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:36789800-36794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:36789800-36802200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:36790000-36794200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:36790000-36794400	Weak transcription	HMEC	breast
18	chr6:36790000-36794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:36790200-36794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:36790400-36794600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:36790600-36794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:36790600-36794400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:36790600-36799400	Enhancers	Fetal Muscle Leg	muscle
24	chr6:36790800-36795600	Enhancers	Esophagus	oesophagus
25	chr6:36791000-36795200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:36791200-36794400	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:36791200-36795000	Weak transcription	Fetal Stomach	stomach
28	chr6:36791200-36805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:36791400-36796000	Enhancers	Spleen	Spleen
30	chr6:36791400-36798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:36791600-36795000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:36791600-36797000	Enhancers	Right Ventricle	heart
33	chr6:36792000-36795000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:36792000-36796200	Enhancers	Fetal Heart	heart
35	chr6:36792200-36794800	Bivalent Enhancer	HepG2	liver
36	chr6:36792200-36795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:36792400-36794600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:36792400-36794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:36792400-36796600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:36792800-36794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:36792800-36796000	Enhancers	Fetal Brain Male	brain
42	chr6:36793000-36796000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:36793400-36796600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:36793600-36794600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:36793600-36796600	Enhancers	Adipose Nuclei	Adipose
46	chr6:36793800-36796200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:36793800-36796600	Enhancers	Brain Anterior Caudate	brain
48	chr6:36794000-36794400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr6:36794000-36795200	Flanking Active TSS	HUVEC	blood vessel
50	chr6:36794000-36795400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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