Variant report

Variant	rs11241204
Chromosome Location	chr5:112693716-112693717
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	chr5:112692453..112694842-chr5:112700634..112702263,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10038504	0.89[CHB][hapmap]
rs10040616	0.90[CHB][hapmap];0.90[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043783	0.88[CHB][hapmap]
rs10053052	0.88[CHB][hapmap]
rs10053157	0.88[CHB][hapmap]
rs10053622	0.89[CHB][hapmap]
rs10055327	0.89[CHB][hapmap]
rs10057264	0.89[CHB][hapmap]
rs10063334	0.88[CHB][hapmap]
rs10066163	0.89[CHB][hapmap]
rs10066985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11952758	0.88[CHB][hapmap]
rs11960559	0.89[CHB][hapmap]
rs13157360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162970	0.82[CEU][hapmap]
rs13182505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13185592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13354840	0.88[CHB][hapmap]
rs1353100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135618	0.88[CHB][hapmap]
rs255869	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs255875	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26965	0.81[CEU][hapmap]
rs34561076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3842916	0.88[CHB][hapmap]
rs3843501	0.88[CHB][hapmap]
rs3857436	0.88[CHB][hapmap]
rs41459745	0.88[CHB][hapmap]
rs4583882	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60702346	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6879370	0.89[CHB][hapmap]
rs7701757	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705430	0.88[CHB][hapmap]
rs7709550	0.89[CHB][hapmap]
rs7709818	0.88[CHB][hapmap]
rs7715884	0.89[CHB][hapmap]
rs7719254	0.82[CHB][hapmap]
rs7722421	0.88[CHB][hapmap]
rs7731564	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7737155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	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	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
3	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	chr5:112682000-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112690200-112693800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112690200-112695400	Weak transcription	HMEC	breast
4	chr5:112690200-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112692600-112694800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:112693000-112694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:112693000-112694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:112693200-112694400	Enhancers	HSMMtube	muscle
9	chr5:112693200-112694600	Enhancers	Fetal Muscle Leg	muscle
10	chr5:112693200-112694800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:112693200-112695400	Enhancers	HUVEC	blood vessel
12	chr5:112693400-112693800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:112693400-112694000	Enhancers	Adipose Nuclei	Adipose
14	chr5:112693400-112694200	Enhancers	Gastric	stomach
15	chr5:112693400-112694200	Enhancers	Psoas Muscle	Psoas
16	chr5:112693400-112694200	Enhancers	Right Atrium	heart
17	chr5:112693400-112695200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:112693400-112695200	Enhancers	Fetal Stomach	stomach
19	chr5:112693400-112695200	Enhancers	Stomach Mucosa	stomach
20	chr5:112693600-112694000	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:112693600-112694000	Weak transcription	Fetal Heart	heart
22	chr5:112693600-112694600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:112693600-112695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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