Variant report

Variant	rs13362189
Chromosome Location	chr5:112940706-112940707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10053341	0.90[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs10056194	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10065790	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071684	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072503	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10078214	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11241213	0.83[ASN][1000 genomes]
rs13171630	0.86[ASN][1000 genomes]
rs13174075	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs13182972	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13436825	0.81[ASN][1000 genomes]
rs17331844	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388260	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17389165	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1816062	0.86[ASN][1000 genomes]
rs2162841	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972689	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972690	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33992630	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34147627	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34324763	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs348928	0.86[CHB][hapmap]
rs348929	0.86[CHB][hapmap]
rs348930	0.86[CHB][hapmap]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs348947	0.86[CHB][hapmap]
rs348956	0.86[CHB][hapmap]
rs348961	0.86[CHB][hapmap]
rs348962	0.86[CHB][hapmap]
rs348963	0.86[CHB][hapmap]
rs35093510	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35926701	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35933960	0.86[ASN][1000 genomes]
rs36023163	0.86[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs444322	0.86[CHB][hapmap]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs644154	0.86[CHB][hapmap]
rs66572866	0.81[ASN][1000 genomes]
rs67320720	0.81[ASN][1000 genomes]
rs6867579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6871934	0.80[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6872490	0.81[ASN][1000 genomes]
rs6883102	1.00[CHB][hapmap]
rs6883547	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6887482	1.00[CHB][hapmap]
rs6890874	0.80[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs71577448	0.81[ASN][1000 genomes]
rs72792189	0.81[ASN][1000 genomes]
rs7706721	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7708831	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7718203	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180416	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326890	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326891	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112917200-112942000	Weak transcription	K562	blood
4	chr5:112920800-112942000	Weak transcription	Ovary	ovary
5	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
6	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:112929800-112942000	Weak transcription	NH-A	brain
8	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112930000-112941800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:112930000-112941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:112930000-112942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112930000-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112930200-112942000	Weak transcription	Left Ventricle	heart
16	chr5:112930200-112944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112930400-112942000	Weak transcription	A549	lung
18	chr5:112930800-112942200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112931400-112943600	Weak transcription	NHDF-Ad	bronchial
20	chr5:112931800-112941800	Weak transcription	Placenta	Placenta
21	chr5:112931800-112943600	Weak transcription	Dnd41	blood
22	chr5:112932600-112942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112933600-112941800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:112933600-112942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:112933800-112943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:112937200-112941800	Weak transcription	Right Atrium	heart
27	chr5:112939400-112942000	Weak transcription	HMEC	breast
28	chr5:112939600-112942200	Weak transcription	NHEK	skin

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