Variant report

Variant	rs10072511
Chromosome Location	chr5:112673962-112673963
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	chr5:112672794..112674511-chr5:112933592..112935108,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10036581	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10057210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067046	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10076501	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1038918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11748642	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11948072	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13153071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13190054	0.82[CEU][hapmap]
rs1517206	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517210	0.84[CEU][hapmap]
rs1838207	0.86[CEU][hapmap]
rs1845290	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs1850408	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165928	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2416310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs255856	0.84[CEU][hapmap]
rs27566	0.84[CEU][hapmap]
rs3857435	0.84[CEU][hapmap]
rs461034	0.87[JPT][hapmap]
rs463216	0.82[JPT][hapmap]
rs465898	0.82[JPT][hapmap]
rs4705812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705813	0.82[AMR][1000 genomes]
rs6594700	0.88[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6594711	0.82[CEU][hapmap]
rs6869097	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6873400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873755	0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6875238	0.82[AMR][1000 genomes]
rs6894434	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7702120	0.81[CEU][hapmap]
rs7719254	0.85[YRI][hapmap]
rs7722276	0.85[CEU][hapmap]
rs7735247	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:112667000-112674000	Weak transcription	Right Atrium	heart
3	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
4	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:112667200-112678800	Weak transcription	HMEC	breast
6	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112667200-112680600	Weak transcription	NHEK	skin
8	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
9	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
10	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:112671400-112676400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:112672000-112674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:112672000-112674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:112672400-112674400	Enhancers	NH-A	brain
15	chr5:112672800-112675000	Enhancers	Ovary	ovary
16	chr5:112673000-112676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:112673200-112675000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:112673200-112676800	Weak transcription	Fetal Stomach	stomach
19	chr5:112673200-112678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:112673600-112674000	Enhancers	Fetal Kidney	kidney
21	chr5:112673600-112674400	Enhancers	Colon Smooth Muscle	Colon
22	chr5:112673800-112674000	Weak transcription	Left Ventricle	heart
23	chr5:112673800-112674400	Enhancers	Osteobl	bone
24	chr5:112673800-112675400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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