Variant report

Variant	rs10519342
Chromosome Location	chr5:112581253-112581254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112579792..112582768-chr5:112586295..112589549,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10213689	1.00[ASN][1000 genomes]
rs10213826	1.00[ASN][1000 genomes]
rs10519339	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10519340	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	1.00[ASN][1000 genomes]
rs11958840	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968992	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57948635	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	1.00[ASN][1000 genomes]
rs59673184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60727695	1.00[ASN][1000 genomes]
rs61643643	1.00[ASN][1000 genomes]
rs61692685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6859436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859619	1.00[ASN][1000 genomes]
rs6861939	0.88[YRI][hapmap]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	1.00[ASN][1000 genomes]
rs73244742	1.00[ASN][1000 genomes]
rs73244743	1.00[ASN][1000 genomes]
rs73244754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7723474	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9326885	1.00[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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112572000-112581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112572400-112590400	Weak transcription	Liver	Liver
6	chr5:112572600-112585800	Weak transcription	Pancreas	Pancrea
7	chr5:112572800-112581800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112575200-112581400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:112575400-112585400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:112575600-112581800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:112575600-112582000	Weak transcription	Fetal Stomach	stomach
12	chr5:112576400-112582200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:112578600-112584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:112578800-112581800	Weak transcription	HUVEC	blood vessel
15	chr5:112578800-112581800	Weak transcription	NHDF-Ad	bronchial
16	chr5:112578800-112584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112579200-112582000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:112579200-112582000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112579600-112582200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:112579600-112582600	Weak transcription	Right Ventricle	heart
21	chr5:112579600-112585400	Weak transcription	Esophagus	oesophagus
22	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
23	chr5:112579800-112581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112579800-112581800	Weak transcription	HMEC	breast
25	chr5:112579800-112582200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:112580200-112583000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:112580400-112583400	Enhancers	Fetal Heart	heart
28	chr5:112580400-112583800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:112580600-112581400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112580600-112582000	Enhancers	Fetal Muscle Leg	muscle
31	chr5:112580600-112582000	Enhancers	NHEK	skin
32	chr5:112580600-112583200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:112580800-112581400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:112580800-112581400	Enhancers	Placenta	Placenta
36	chr5:112580800-112581400	Enhancers	Ovary	ovary
37	chr5:112580800-112583600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:112580800-112583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:112580800-112583800	Enhancers	Psoas Muscle	Psoas
40	chr5:112581000-112581600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:112581000-112582800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:112581000-112583000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:112581000-112583200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:112581200-112581400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:112581200-112581400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:112581200-112581400	Enhancers	Adipose Nuclei	Adipose
47	chr5:112581200-112581400	Flanking Active TSS	Left Ventricle	heart
48	chr5:112581200-112581800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112581200-112582000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:112581200-112582000	Weak transcription	Right Atrium	heart

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