Variant report

Variant	rs2918417
Chromosome Location	chr5:142726170-142726171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142726115..142728667-chr5:142731602..142734053,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10052957	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482633	0.85[GIH][hapmap]
rs10482642	0.81[GIH][hapmap]
rs10482689	0.81[GIH][hapmap]
rs10515521	0.85[GIH][hapmap]
rs11740792	0.85[GIH][hapmap]
rs11747997	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749561	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1438732	1.00[JPT][hapmap]
rs1635474	0.82[ASN][1000 genomes]
rs17339831	0.88[GIH][hapmap]
rs1837262	0.80[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1866388	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs190488	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2043840	1.00[JPT][hapmap]
rs258750	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258753	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs258754	0.83[ASN][1000 genomes]
rs258755	0.83[ASN][1000 genomes]
rs258813	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258814	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2918415	1.00[JPT][hapmap]
rs2918416	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2918418	1.00[JPT][hapmap]
rs2918419	1.00[JPT][hapmap]
rs2963149	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963151	1.00[JPT][hapmap]
rs2963153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963154	1.00[JPT][hapmap]
rs33380	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs33389	1.00[JPT][hapmap]
rs4128428	0.85[GIH][hapmap]
rs6188	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6194	1.00[JPT][hapmap]
rs6196	1.00[JPT][hapmap]
rs6198	0.85[GIH][hapmap]
rs6861962	1.00[JPT][hapmap]
rs712189	0.86[JPT][hapmap]
rs72801096	0.97[ASN][1000 genomes]
rs852975	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852977	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852978	1.00[JPT][hapmap]
rs852979	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs852982	0.93[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853154	0.85[ASN][1000 genomes]
rs853157	0.85[JPT][hapmap]
rs853177	0.87[ASN][1000 genomes]
rs853178	0.87[ASN][1000 genomes]
rs853184	1.00[JPT][hapmap]
rs860457	0.93[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs860465	0.87[ASN][1000 genomes]
rs862489	0.87[ASN][1000 genomes]
rs864082	1.00[JPT][hapmap]
rs9324918	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142703000-142727200	Weak transcription	HSMM	muscle
3	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
5	chr5:142707800-142727400	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:142708000-142727200	Weak transcription	Fetal Thymus	thymus
7	chr5:142708000-142727400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
11	chr5:142708800-142726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:142711800-142728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:142714800-142726200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:142715200-142726600	Weak transcription	HepG2	liver
15	chr5:142716000-142730200	Weak transcription	Fetal Lung	lung
16	chr5:142716400-142726400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:142716600-142734200	Weak transcription	Ovary	ovary
18	chr5:142719200-142726400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:142719400-142735400	Weak transcription	Gastric	stomach
20	chr5:142721200-142727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:142722000-142726200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:142722000-142726400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:142722000-142726400	Weak transcription	Osteobl	bone
24	chr5:142722000-142727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:142722200-142728600	Weak transcription	HMEC	breast
26	chr5:142722400-142727200	Weak transcription	Hela-S3	cervix
27	chr5:142722400-142728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:142722400-142728800	Weak transcription	NHEK	skin
29	chr5:142722800-142735400	Weak transcription	Pancreas	Pancrea
30	chr5:142723000-142726400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:142723000-142727200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:142723000-142727200	Weak transcription	NHLF	lung
33	chr5:142723000-142727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:142723000-142727400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:142723000-142727400	Weak transcription	Left Ventricle	heart
36	chr5:142723000-142727400	Weak transcription	Psoas Muscle	Psoas
37	chr5:142723000-142727400	Weak transcription	Right Atrium	heart
38	chr5:142723000-142727400	Weak transcription	Thymus	Thymus
39	chr5:142723400-142726800	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:142723400-142728600	Weak transcription	K562	blood
41	chr5:142723400-142729000	Weak transcription	Small Intestine	intestine
42	chr5:142724400-142738000	Enhancers	Liver	Liver
43	chr5:142725000-142726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:142725000-142726800	Enhancers	GM12878-XiMat	blood
45	chr5:142725000-142727200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:142725000-142731000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr5:142725000-142764200	Weak transcription	Lung	lung
48	chr5:142725200-142732400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:142725200-142737000	Weak transcription	Fetal Intestine Small	intestine
50	chr5:142725400-142727000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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