Variant report

Variant	rs6859190
Chromosome Location	chr5:112526686-112526687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007172	0.87[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes]
rs10072487	0.96[CEU][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11739347	0.80[JPT][hapmap]
rs11955699	0.82[CEU][hapmap]
rs13156236	0.82[CEU][hapmap]
rs1443685	0.82[CEU][hapmap]
rs1443687	0.82[CEU][hapmap]
rs2416313	0.80[JPT][hapmap]
rs2416314	0.80[JPT][hapmap]
rs2416315	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2900071	0.84[AMR][1000 genomes]
rs4705547	0.83[CEU][hapmap]
rs4705801	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4705802	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs6876116	0.95[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6896522	0.83[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7703089	0.81[ASN][1000 genomes]
rs7719681	0.82[CEU][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs7720516	0.83[CEU][hapmap]
rs935162	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
3	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
4	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112522000-112538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112522600-112528200	Weak transcription	Fetal Lung	lung
7	chr5:112522600-112528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112522600-112530600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112522600-112534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:112522600-112535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112522600-112535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:112522800-112528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112522800-112535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112523000-112528600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:112524400-112528400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112524800-112531200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112524800-112531800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:112525400-112526800	Enhancers	HMEC	breast
20	chr5:112525400-112527400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:112525400-112527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:112525600-112526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:112525600-112527400	Enhancers	Esophagus	oesophagus
24	chr5:112525600-112527800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:112525800-112526800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:112525800-112530600	Weak transcription	Right Ventricle	heart
27	chr5:112525800-112533400	Weak transcription	Spleen	Spleen
28	chr5:112526000-112526800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:112526000-112526800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:112526000-112526800	Genic enhancers	Liver	Liver
31	chr5:112526200-112526800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112526200-112526800	Flanking Active TSS	NHEK	skin
33	chr5:112526200-112527000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:112526200-112530200	Weak transcription	Left Ventricle	heart
35	chr5:112526400-112526800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:112526400-112526800	Enhancers	Lung	lung
37	chr5:112526400-112527000	Strong transcription	Fetal Heart	heart
38	chr5:112526400-112527200	Genic enhancers	Ovary	ovary
39	chr5:112526400-112527200	Enhancers	Right Atrium	heart
40	chr5:112526400-112527400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:112526400-112535000	Weak transcription	NH-A	brain
42	chr5:112526600-112526800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:112526600-112528400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:112526600-112528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:112526600-112531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:112526600-112535000	Weak transcription	NHDF-Ad	bronchial
47	chr5:112526600-112535200	Weak transcription	Muscle Satellite Cultured Cells	--

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