Variant report

Variant	rs11951897
Chromosome Location	chr5:112693461-112693462
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10037845	0.87[YRI][hapmap]
rs10042401	0.87[YRI][hapmap]
rs10043512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054914	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10055294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070884	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077495	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078931	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10478122	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11960242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110055	0.85[YRI][hapmap]
rs13358281	0.87[YRI][hapmap]
rs7719254	0.82[YRI][hapmap]
rs7720243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:27 , 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	chr5:112693200-112693600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:112693200-112693600	Enhancers	Left Ventricle	heart
10	chr5:112693200-112693600	Enhancers	Pancreas	Pancrea
11	chr5:112693200-112694400	Enhancers	HSMMtube	muscle
12	chr5:112693200-112694600	Enhancers	Fetal Muscle Leg	muscle
13	chr5:112693200-112694800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:112693200-112695400	Enhancers	HUVEC	blood vessel
15	chr5:112693400-112693600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:112693400-112693600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112693400-112693600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr5:112693400-112693600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:112693400-112693600	Enhancers	Fetal Heart	heart
20	chr5:112693400-112693800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr5:112693400-112694000	Enhancers	Adipose Nuclei	Adipose
22	chr5:112693400-112694200	Enhancers	Gastric	stomach
23	chr5:112693400-112694200	Enhancers	Psoas Muscle	Psoas
24	chr5:112693400-112694200	Enhancers	Right Atrium	heart
25	chr5:112693400-112695200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:112693400-112695200	Enhancers	Fetal Stomach	stomach
27	chr5:112693400-112695200	Enhancers	Stomach Mucosa	stomach

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