Variant report

Variant	rs9380475
Chromosome Location	chr6:34918239-34918240
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	chr6:34855279..34857793-chr6:34917331..34920271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064995	Chromatin interaction
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11970238	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12173920	0.84[ASN][1000 genomes]
rs12175621	0.84[ASN][1000 genomes]
rs12176092	0.84[ASN][1000 genomes]
rs16895362	0.84[ASN][1000 genomes]
rs16895467	0.84[ASN][1000 genomes]
rs16896235	0.91[ASN][1000 genomes]
rs2273007	0.82[ASN][1000 genomes]
rs3756857	0.82[ASN][1000 genomes]
rs3756858	0.81[ASN][1000 genomes]
rs3800439	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800442	0.94[ASN][1000 genomes]
rs3800447	0.85[ASN][1000 genomes]
rs3800449	0.86[ASN][1000 genomes]
rs3807051	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57608318	0.89[ASN][1000 genomes]
rs58764768	0.83[ASN][1000 genomes]
rs60509690	0.81[ASN][1000 genomes]
rs60815469	0.83[ASN][1000 genomes]
rs6906552	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73403805	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73421513	0.82[ASN][1000 genomes]
rs73421528	0.86[ASN][1000 genomes]
rs73421536	0.91[ASN][1000 genomes]
rs73421541	0.95[ASN][1000 genomes]
rs847849	0.89[ASN][1000 genomes]
rs9348952	0.82[ASN][1000 genomes]
rs9348954	0.83[ASN][1000 genomes]
rs9348955	0.89[ASN][1000 genomes]
rs9348956	0.91[ASN][1000 genomes]
rs9348957	0.81[ASN][1000 genomes]
rs9357186	0.82[ASN][1000 genomes]
rs9357189	0.95[ASN][1000 genomes]
rs9357191	0.95[ASN][1000 genomes]
rs9366871	0.82[ASN][1000 genomes]
rs9366873	0.84[ASN][1000 genomes]
rs9368840	0.84[ASN][1000 genomes]
rs9368842	0.92[ASN][1000 genomes]
rs9368844	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9380471	0.84[ASN][1000 genomes]
rs9380472	0.86[ASN][1000 genomes]
rs9380478	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394253	0.82[ASN][1000 genomes]
rs9394257	0.84[ASN][1000 genomes]
rs9394258	0.84[ASN][1000 genomes]
rs9394261	0.95[ASN][1000 genomes]
rs9394262	0.95[ASN][1000 genomes]
rs9394264	0.92[ASN][1000 genomes]
rs9394265	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394267	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9380475	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs9380475	UHRF1BP1	cis	Whole Blood	GTEx
rs9380475	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
2	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
8	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:34906200-34921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:34907400-34922000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:34907400-34937600	Weak transcription	Dnd41	blood
15	chr6:34907600-34923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:34907800-34919600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:34907800-34921000	Weak transcription	Left Ventricle	heart
18	chr6:34907800-34922000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:34907800-34922400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:34908200-34918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:34908200-34919200	Weak transcription	Fetal Intestine Small	intestine
22	chr6:34908400-34921200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:34910200-34918400	Weak transcription	Psoas Muscle	Psoas
24	chr6:34911000-34921000	Weak transcription	Right Atrium	heart
25	chr6:34911000-34921200	Weak transcription	Right Ventricle	heart
26	chr6:34912400-34928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:34915600-34919200	Weak transcription	NHEK	skin
28	chr6:34915800-34926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34916800-34918600	Enhancers	Thymus	Thymus
30	chr6:34916800-34927800	Weak transcription	Lung	lung
31	chr6:34917000-34918400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:34917200-34926800	Weak transcription	Spleen	Spleen
33	chr6:34917400-34919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:34917400-34921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:34917600-34919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:34917800-34921000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:34917800-34921000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:34918000-34918800	Enhancers	Placenta	Placenta
39	chr6:34918000-34921000	Weak transcription	Ovary	ovary
40	chr6:34918200-34918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:34918200-34919200	Weak transcription	HepG2	liver
42	chr6:34918200-34923200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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