Variant report

Variant	rs7024597
Chromosome Location	chr9:13897245-13897246
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	chr9:13896594..13899401-chr9:13941918..13943557,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10810055	0.87[AFR][1000 genomes]
rs10810057	1.00[CHB][hapmap]
rs10961291	1.00[JPT][hapmap]
rs10961296	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10961297	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12002277	0.84[AFR][1000 genomes]
rs12343481	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12344771	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12350449	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17822351	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1822541	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs1923352	0.81[ASN][1000 genomes]
rs2382425	0.81[AMR][1000 genomes]
rs4548276	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6474794	1.00[JPT][hapmap]
rs7023760	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7023898	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7029494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes]
rs7031343	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7035288	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7036035	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7847329	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7874643	0.83[AFR][1000 genomes]
rs7874645	1.00[ASN][1000 genomes]
rs9696084	1.00[ASN][1000 genomes]
rs981564	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9886719	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1032113	chr9:13861066-13923136	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032447	chr9:13861066-13923673	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv613635	chr9:13893246-13961462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13880600-13899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13892000-13898600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:13895200-13897800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:13895400-13899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:13895600-13897800	Enhancers	NHEK	skin
6	chr9:13895800-13897400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:13895800-13897600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:13895800-13898200	Enhancers	HUVEC	blood vessel
9	chr9:13896400-13897800	Enhancers	Adipose Nuclei	Adipose
10	chr9:13896800-13897400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:13896800-13897800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:13896800-13898200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:13897000-13897600	Enhancers	HSMM	muscle
14	chr9:13897000-13897800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:13897000-13897800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:13897000-13897800	Enhancers	Aorta	Aorta
17	chr9:13897000-13897800	Enhancers	Brain Substantia Nigra	brain
18	chr9:13897000-13897800	Enhancers	Fetal Lung	lung
19	chr9:13897000-13898000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:13897000-13899000	Enhancers	Fetal Kidney	kidney
21	chr9:13897200-13897400	Enhancers	Fetal Stomach	stomach
22	chr9:13897200-13897800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:13897200-13898000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:13897200-13898600	Weak transcription	Left Ventricle	heart
25	chr9:13897200-13899000	Weak transcription	Placenta	Placenta

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