Variant report

Variant	rs6651175
Chromosome Location	chr8:92031248-92031249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92017586..92020319-chr8:92031030..92033233,2	K562	blood:
2	chr8:92030641..92032494-chr8:92052055..92054477,2	MCF-7	breast:
3	chr8:92029069..92031274-chr8:92031690..92034648,2	MCF-7	breast:
4	chr8:92030839..92032914-chr8:92080520..92082573,3	K562	blood:
5	chr8:92030935..92034138-chr8:92080148..92083540,3	K562	blood:

Variant related genes	Relation type
ENSG00000155100	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10087080	1.00[CHD][hapmap]
rs10091357	1.00[CHD][hapmap]
rs10097509	0.88[CHD][hapmap]
rs10490979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1060583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989738	0.85[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs11994240	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11994903	1.00[JPT][hapmap]
rs11997330	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12114104	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12114679	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16905427	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16905437	1.00[JPT][hapmap]
rs16905862	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs16906071	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16907242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202392	1.00[JPT][hapmap]
rs34503257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260862	1.00[CHD][hapmap]
rs4389891	1.00[JPT][hapmap]
rs4645524	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55999403	0.89[EUR][1000 genomes]
rs56871170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183914	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58624537	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58807337	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59695689	0.86[EUR][1000 genomes]
rs60121972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471263	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999220	0.85[CHB][hapmap]
rs7006863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017072	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs73298014	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73298068	0.82[EUR][1000 genomes]
rs73299912	0.84[EUR][1000 genomes]
rs73299915	0.82[EUR][1000 genomes]
rs73299920	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73299946	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299965	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299977	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299979	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838907	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6651175	CCNE2	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:92014600-92033000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:92014800-92032400	Weak transcription	Spleen	Spleen
4	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
5	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
6	chr8:92025200-92032400	Strong transcription	Placenta	Placenta
7	chr8:92025400-92032600	Strong transcription	Fetal Thymus	thymus
8	chr8:92026000-92038400	Weak transcription	Esophagus	oesophagus
9	chr8:92026200-92031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:92026400-92032200	Strong transcription	Thymus	Thymus
11	chr8:92026400-92032400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:92026400-92032600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:92026800-92032400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr8:92027000-92031400	Strong transcription	Osteobl	bone
15	chr8:92027200-92032000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:92027200-92032200	Strong transcription	Left Ventricle	heart
17	chr8:92027400-92031600	Strong transcription	A549	lung
18	chr8:92027400-92032200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:92027800-92032200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:92027800-92033400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:92028000-92032200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:92028000-92032200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:92028000-92032600	Strong transcription	Adipose Nuclei	Adipose
24	chr8:92028000-92032800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:92028000-92034400	Weak transcription	Small Intestine	intestine
26	chr8:92028000-92035200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:92028000-92036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:92028000-92038000	Weak transcription	Brain Germinal Matrix	brain
29	chr8:92028000-92038000	Weak transcription	Psoas Muscle	Psoas
30	chr8:92028200-92031400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:92028200-92032200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr8:92028200-92032400	Strong transcription	Fetal Lung	lung
33	chr8:92028200-92032600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:92028400-92031400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:92028400-92032200	Strong transcription	NH-A	brain
37	chr8:92028400-92033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:92028600-92032000	Weak transcription	Gastric	stomach
39	chr8:92028600-92032200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:92028600-92032600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:92028800-92031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:92028800-92032000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr8:92028800-92032600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:92029000-92031400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:92029000-92032400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr8:92029000-92032400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:92029000-92032400	Strong transcription	Primary T cells from cord blood	blood
48	chr8:92029000-92032600	Strong transcription	HSMM	muscle
49	chr8:92029000-92033200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:92029000-92033400	Strong transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links