Variant report

Variant	rs9348868
Chromosome Location	chr6:11368118-11368119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11219669..11221481-chr6:11366413..11368482,2	MCF-7	breast:
2	chr6:11343828..11346544-chr6:11366982..11368988,2	MCF-7	breast:
3	chr6:11363261..11366684-chr6:11366769..11368460,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1012502	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013678	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947204	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12193099	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12199545	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12204242	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12208626	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12210644	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12215372	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12215715	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215894	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13198555	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13217274	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1810451	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2179178	0.82[AMR][1000 genomes]
rs3798752	0.95[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4276494	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4533978	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4632886	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711271	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019594	0.82[CHB][hapmap]
rs6916534	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6918440	0.82[CHB][hapmap]
rs6932496	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7738560	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768351	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9296000	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs9357127	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9461714	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9469034	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9348868	C6orf218	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11355200-11370800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:11357200-11371200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:11357800-11370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:11359400-11369800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:11361200-11370600	Weak transcription	Thymus	Thymus
6	chr6:11364600-11369400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:11364600-11371200	Enhancers	HUVEC	blood vessel
8	chr6:11364600-11381200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:11364800-11370400	Weak transcription	Spleen	Spleen
10	chr6:11364800-11370800	Weak transcription	Placenta	Placenta
11	chr6:11365000-11370600	Weak transcription	Fetal Thymus	thymus
12	chr6:11365600-11374400	Weak transcription	Stomach Mucosa	stomach
13	chr6:11365600-11374800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:11365800-11369800	Weak transcription	Fetal Lung	lung
15	chr6:11366000-11368400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr6:11366000-11368400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:11366200-11368400	Enhancers	Colonic Mucosa	Colon
18	chr6:11366200-11369400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:11366400-11369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:11366400-11369400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:11366600-11368200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:11366600-11368400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:11366600-11368600	Genic enhancers	Primary B cells from cord blood	blood
24	chr6:11366800-11368200	Flanking Active TSS	Liver	Liver
25	chr6:11366800-11368400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:11366800-11368400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:11366800-11368400	Enhancers	Primary T cells from cord blood	blood
28	chr6:11366800-11368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:11366800-11368400	Enhancers	Fetal Intestine Small	intestine
30	chr6:11366800-11368400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:11366800-11368400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:11366800-11368600	Enhancers	Adipose Nuclei	Adipose
33	chr6:11366800-11369000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:11366800-11369000	Enhancers	Fetal Intestine Large	intestine
35	chr6:11366800-11369400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:11366800-11369400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:11366800-11369600	Enhancers	NHEK	skin
38	chr6:11366800-11369800	Enhancers	HMEC	breast
39	chr6:11366800-11371000	Enhancers	Fetal Kidney	kidney
40	chr6:11367000-11369000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:11367000-11369400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:11367000-11369400	Enhancers	NH-A	brain
43	chr6:11367000-11370600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:11367000-11370800	Weak transcription	Esophagus	oesophagus
45	chr6:11367200-11368200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:11367200-11368200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:11367200-11368200	Enhancers	Osteobl	bone
48	chr6:11367200-11368400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:11367200-11368400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:11367200-11368400	Enhancers	Primary neutrophils fromperipheralblood	blood

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