Variant report

Variant	rs9415711
Chromosome Location	chr10:52839673-52839674
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	chr10:52839499..52841510-chr10:52846608..52849576,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10508935	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10740111	0.84[EUR][1000 genomes]
rs10740130	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761738	0.91[EUR][1000 genomes]
rs10761807	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10761831	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10822188	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10822189	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10822194	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10822197	0.83[EUR][1000 genomes]
rs10822198	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10822210	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10822211	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10822229	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10995458	0.91[EUR][1000 genomes]
rs10995473	0.86[EUR][1000 genomes]
rs10995526	0.91[EUR][1000 genomes]
rs10995617	0.81[EUR][1000 genomes]
rs10995620	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10995651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10995655	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10995788	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10995790	0.82[ASN][1000 genomes]
rs12218335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12220644	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12221226	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12415785	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12767015	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913257	0.91[EUR][1000 genomes]
rs16913900	0.82[EUR][1000 genomes]
rs16913956	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983222	0.88[EUR][1000 genomes]
rs2339675	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2660202	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2666543	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2879544	0.81[EUR][1000 genomes]
rs3964605	0.91[EUR][1000 genomes]
rs4622210	0.84[EUR][1000 genomes]
rs4935220	0.87[AFR][1000 genomes]
rs55767509	0.91[EUR][1000 genomes]
rs7074892	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7084767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912628	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299457	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9414805	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9414806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9414807	0.81[EUR][1000 genomes]
rs9414808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9414809	0.82[EUR][1000 genomes]
rs9414810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9415709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9415710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9633564	0.90[EUR][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	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9415711	NCOA4	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52832800-52840000	Active TSS	Aorta	Aorta
2	chr10:52834800-52842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:52835600-52842400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:52836000-52840000	Weak transcription	Fetal Lung	lung
5	chr10:52836200-52840000	Weak transcription	Fetal Brain Female	brain
6	chr10:52836200-52841200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:52836200-52842800	Weak transcription	Psoas Muscle	Psoas
8	chr10:52836400-52840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:52836400-52847400	Weak transcription	Right Ventricle	heart
10	chr10:52836600-52841000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:52837000-52840000	Weak transcription	Fetal Stomach	stomach
12	chr10:52837200-52843000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:52837200-52849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:52837600-52840000	Weak transcription	NHLF	lung
15	chr10:52837600-52840200	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:52837600-52842800	Weak transcription	NHDF-Ad	bronchial
17	chr10:52838200-52842800	Weak transcription	Left Ventricle	heart
18	chr10:52838800-52840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:52838800-52840600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:52838800-52840600	Enhancers	Rectal Smooth Muscle	rectum
21	chr10:52838800-52841200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:52838800-52841600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:52838800-52841600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:52839000-52840200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:52839000-52840200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr10:52839000-52840400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:52839000-52840600	Enhancers	Colon Smooth Muscle	Colon
28	chr10:52839000-52841000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:52839000-52841400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:52839000-52844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:52839200-52839800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr10:52839200-52840600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:52839200-52841800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr10:52839400-52839800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr10:52839400-52840000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:52839400-52840000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:52839400-52840400	Enhancers	Right Atrium	heart
38	chr10:52839400-52840600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:52839400-52840600	Enhancers	Fetal Kidney	kidney
40	chr10:52839400-52841400	Enhancers	Fetal Brain Male	brain
41	chr10:52839600-52840000	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr10:52839600-52840200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:52839600-52843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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