Variant report

Variant	rs9567999
Chromosome Location	chr13:48686866-48686867
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	chr13:48610309..48612694-chr13:48684921..48687258,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1327655	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17350996	0.87[EUR][1000 genomes]
rs2025865	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3809330	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4941627	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942742	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942743	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942747	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942748	0.83[EUR][1000 genomes]
rs4942749	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942750	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942751	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942752	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59829900	0.88[EUR][1000 genomes]
rs6561434	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7317431	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7318704	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7322766	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7323969	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7331551	0.90[EUR][1000 genomes]
rs7332147	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7332326	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7333237	0.98[ASN][1000 genomes]
rs7333247	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7338844	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7338999	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7339370	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7981114	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7986400	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7990060	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285165	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316346	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9316347	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9316348	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316349	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316352	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9316353	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316354	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9316355	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316356	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316357	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316358	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316359	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562800	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9562806	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562808	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567993	0.86[EUR][1000 genomes]
rs9567994	0.81[EUR][1000 genomes]
rs9568000	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568001	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568002	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568003	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568004	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568005	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568006	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568008	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568009	0.99[EUR][1000 genomes]
rs9568010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568014	0.84[AMR][1000 genomes]
rs9591135	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591138	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591139	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591140	0.88[EUR][1000 genomes]
rs9595835	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9595836	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9595837	0.81[EUR][1000 genomes]
rs9595843	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9595851	0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48683400-48687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:48685000-48688800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:48685000-48689000	Enhancers	Adipose Nuclei	Adipose
4	chr13:48685000-48689200	Enhancers	HepG2	liver
5	chr13:48685200-48687200	Enhancers	Left Ventricle	heart
6	chr13:48685200-48687200	Enhancers	Right Atrium	heart
7	chr13:48685800-48687200	Weak transcription	NH-A	brain
8	chr13:48685800-48687400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:48686000-48687000	Weak transcription	HMEC	breast
10	chr13:48686000-48687200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:48686000-48687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:48686200-48687600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:48686200-48687600	Weak transcription	Brain Angular Gyrus	brain
14	chr13:48686400-48687400	Weak transcription	Hela-S3	cervix
15	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:48686800-48688600	Enhancers	NHEK	skin
17	chr13:48686800-48688800	Enhancers	Placenta	Placenta

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