Variant report

Variant	rs718449
Chromosome Location	chr2:182405563-182405564
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	chr2:182404574..182407560-chr2:182408390..182411205,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038034	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10490685	0.85[ASN][1000 genomes]
rs10490691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11553356	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614187	0.93[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619341	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12623687	0.87[ASN][1000 genomes]
rs12623737	0.87[ASN][1000 genomes]
rs1449259	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867431	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16867433	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16867437	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867438	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867442	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867443	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867444	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867445	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816990	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305581	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305582	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770106	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770109	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770111	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770116	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4479393	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4666787	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667310	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55741565	0.87[ASN][1000 genomes]
rs55743845	0.85[ASN][1000 genomes]
rs55890022	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56005177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56073441	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56081507	0.87[ASN][1000 genomes]
rs56104379	0.87[ASN][1000 genomes]
rs56263562	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56267648	0.81[AFR][1000 genomes]
rs58018201	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58383411	0.84[ASN][1000 genomes]
rs58662009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58716781	0.84[ASN][1000 genomes]
rs6705247	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67427532	0.84[EUR][1000 genomes]
rs6756022	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72883635	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72883653	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72883655	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72883670	0.87[ASN][1000 genomes]
rs72883678	0.87[ASN][1000 genomes]
rs72883679	0.87[ASN][1000 genomes]
rs72883681	0.87[ASN][1000 genomes]
rs72900325	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72900326	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72900343	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601843	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];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs971741	0.87[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718449	CERKL	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
4	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
5	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
9	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr2:182382600-182405600	Strong transcription	Dnd41	blood
11	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
18	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:182389200-182410200	Weak transcription	HMEC	breast
20	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
23	chr2:182398800-182405600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:182400600-182411000	Weak transcription	NH-A	brain
25	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
26	chr2:182402000-182405600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:182402800-182414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:182403400-182406800	Weak transcription	HSMM	muscle
29	chr2:182403800-182408800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:182404200-182405800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:182404200-182406600	Weak transcription	Lung	lung
32	chr2:182404600-182405800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:182404600-182406200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:182404800-182406200	Strong transcription	Thymus	Thymus
35	chr2:182404800-182406200	Genic enhancers	HSMMtube	muscle
36	chr2:182404800-182407000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:182405200-182405800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:182405400-182406600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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