Variant report

Variant	rs10042401
Chromosome Location	chr5:112672512-112672513
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	chr5:112672335..112673213-chr5:112846273..112846906,2	MCF-7	breast:
2	chr5:112670061..112672629-chr5:112676189..112678751,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10037836	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10037845	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10050553	1.00[ASW][hapmap];0.81[MKK][hapmap]
rs10054914	1.00[ASW][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap]
rs10056104	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10070884	0.87[YRI][hapmap]
rs10077495	1.00[ASW][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap]
rs10078931	0.85[YRI][hapmap]
rs10477489	0.89[AMR][1000 genomes]
rs10478116	0.89[AMR][1000 genomes]
rs11951897	0.87[YRI][hapmap]
rs11958613	0.89[AMR][1000 genomes]
rs12110055	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13357188	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13358281	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13361060	0.85[YRI][hapmap]
rs17135570	0.87[YRI][hapmap];0.95[AFR][1000 genomes]
rs28439752	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28462299	0.89[AMR][1000 genomes]
rs28497391	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2860051	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28711712	0.89[AMR][1000 genomes]
rs55889115	0.89[AMR][1000 genomes]
rs59032550	0.89[AMR][1000 genomes]
rs61560548	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73781507	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73781509	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73781510	0.89[AMR][1000 genomes]
rs73781511	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73781512	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7718459	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7720189	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7720243	1.00[ASW][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap]
rs7736171	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
2	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:112667000-112672800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:112667000-112674000	Weak transcription	Right Atrium	heart
5	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
6	chr5:112667200-112672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112667200-112672800	Weak transcription	Fetal Stomach	stomach
8	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:112667200-112678800	Weak transcription	HMEC	breast
10	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112667200-112680600	Weak transcription	NHEK	skin
12	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
13	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
14	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:112671400-112676400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:112672000-112672800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:112672000-112674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112672000-112674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112672200-112672800	Weak transcription	Osteobl	bone
20	chr5:112672400-112673000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:112672400-112673200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112672400-112673200	Enhancers	Dnd41	blood
23	chr5:112672400-112674400	Enhancers	NH-A	brain

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