Variant report

Variant	rs28943888
Chromosome Location	chr5:42631177-42631178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12652476	1.00[EUR][1000 genomes]
rs12654861	1.00[EUR][1000 genomes]
rs12658099	1.00[EUR][1000 genomes]
rs12658163	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872680	1.00[EUR][1000 genomes]
rs16872694	1.00[EUR][1000 genomes]
rs16872756	1.00[EUR][1000 genomes]
rs16872762	1.00[EUR][1000 genomes]
rs16872777	1.00[EUR][1000 genomes]
rs16872791	1.00[EUR][1000 genomes]
rs16872824	1.00[EUR][1000 genomes]
rs16872825	1.00[EUR][1000 genomes]
rs17839373	1.00[EUR][1000 genomes]
rs17839374	1.00[EUR][1000 genomes]
rs230809	1.00[EUR][1000 genomes]
rs28918068	1.00[EUR][1000 genomes]
rs28919894	1.00[EUR][1000 genomes]
rs28919901	1.00[EUR][1000 genomes]
rs28919903	1.00[EUR][1000 genomes]
rs28943887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28943889	1.00[ASN][1000 genomes]
rs2910879	1.00[EUR][1000 genomes]
rs2972752	1.00[EUR][1000 genomes]
rs2972768	1.00[EUR][1000 genomes]
rs2972769	1.00[EUR][1000 genomes]
rs2972782	1.00[EUR][1000 genomes]
rs2972995	1.00[EUR][1000 genomes]
rs2973004	1.00[EUR][1000 genomes]
rs2973009	1.00[EUR][1000 genomes]
rs2973016	1.00[EUR][1000 genomes]
rs2973019	1.00[EUR][1000 genomes]
rs2973030	1.00[EUR][1000 genomes]
rs34194895	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34319505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34382565	1.00[EUR][1000 genomes]
rs35389780	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35436563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6182	1.00[EUR][1000 genomes]
rs6184	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1027023	chr5:42610250-42654999	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv511284	chr5:42626206-42631264	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3468440	chr5:42626695-42632993	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3487770	chr5:42627251-42631713	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3487771	chr5:42627345-42632193	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2602099	chr5:42627607-42631528	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3487769	chr5:42627695-42632143	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3468439	chr5:42627720-42632068	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3468438	chr5:42627840-42631506	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3468442	chr5:42627840-42631506	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv513232	chr5:42628205-42631470	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3487774	chr5:42628236-42631314	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3487773	chr5:42628247-42631282	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv18870	chr5:42628248-42631270	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3091	chr5:42628264-42631311	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3487772	chr5:42628286-42631253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3487776	chr5:42628286-42631253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1811080	chr5:42628844-42631264	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1812659	chr5:42628844-42631264	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1810576	chr5:42629003-42650384	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv597907	chr5:42629998-42650384	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42622800-42631200	Weak transcription	Adipose Nuclei	Adipose
2	chr5:42623000-42631400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:42623200-42631400	Weak transcription	Right Atrium	heart
5	chr5:42623800-42632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
7	chr5:42626600-42632600	Weak transcription	Aorta	Aorta
8	chr5:42626800-42631600	Weak transcription	Placenta	Placenta
9	chr5:42627200-42632200	Weak transcription	Ovary	ovary
10	chr5:42628200-42631400	Weak transcription	Left Ventricle	heart
11	chr5:42628400-42631400	Weak transcription	Liver	Liver
12	chr5:42628400-42631400	Weak transcription	Psoas Muscle	Psoas
13	chr5:42628400-42631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:42628400-42632000	Weak transcription	Esophagus	oesophagus
15	chr5:42629200-42639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:42629800-42631400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:42629800-42637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:42630400-42634600	Enhancers	Fetal Heart	heart

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