Variant report

Variant	rs6791703
Chromosome Location	chr3:46569721-46569722
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46560786..46563399-chr3:46568706..46571436,2	K562	blood:
2	chr3:46569161..46571710-chr3:46593876..46596679,2	K562	blood:
3	chr3:46568691..46571329-chr3:46573292..46576453,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10865942	0.81[YRI][hapmap]
rs11713015	0.94[LWK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs12486039	0.85[CEU][hapmap]
rs12492797	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402152	0.94[LWK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs1814973	0.84[ASN][1000 genomes]
rs1879328	0.86[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2373255	0.92[LWK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs2888531	0.84[ASN][1000 genomes]
rs34334514	0.87[ASN][1000 genomes]
rs34478154	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34504121	0.87[ASN][1000 genomes]
rs35714147	0.87[ASN][1000 genomes]
rs4683243	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs55786118	0.89[ASN][1000 genomes]
rs55990714	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59264692	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67227548	0.86[ASN][1000 genomes]
rs6772937	0.82[CEU][hapmap]
rs67814017	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68018913	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7428292	0.89[ASN][1000 genomes]
rs7621549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632776	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883739	0.84[YRI][hapmap]
rs9810340	0.82[CEU][hapmap]
rs9827559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839075	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9848284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848648	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs9849400	0.94[LWK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]

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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6791703	KIF9	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
2	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
3	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
7	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46558000-46571400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:46558400-46591000	Weak transcription	Gastric	stomach
10	chr3:46559000-46580000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:46559400-46578000	Weak transcription	HSMMtube	muscle
12	chr3:46559600-46573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:46559800-46580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:46560200-46574600	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:46562400-46578800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:46562600-46570200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:46562600-46572600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:46562600-46578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:46566200-46577600	Weak transcription	Fetal Thymus	thymus
20	chr3:46567200-46586000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:46567800-46569800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr3:46567800-46574000	Strong transcription	Ovary	ovary
23	chr3:46567800-46574400	Strong transcription	Left Ventricle	heart
24	chr3:46568000-46571000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:46568000-46578600	Weak transcription	Spleen	Spleen
26	chr3:46568400-46572800	Weak transcription	K562	blood
27	chr3:46568800-46571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:46568800-46571200	Weak transcription	Fetal Stomach	stomach
29	chr3:46568800-46572600	Weak transcription	HMEC	breast
30	chr3:46568800-46578000	Weak transcription	Primary T cells from cord blood	blood
31	chr3:46569000-46570600	Weak transcription	NHEK	skin
32	chr3:46569000-46572800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:46569000-46572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:46569000-46577800	Weak transcription	Right Ventricle	heart
35	chr3:46569000-46578800	Weak transcription	Liver	Liver
36	chr3:46569000-46584200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:46569200-46578400	Weak transcription	NHDF-Ad	bronchial
38	chr3:46569600-46580200	Weak transcription	Fetal Muscle Leg	muscle

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