Variant report

Variant	rs9536245
Chromosome Location	chr13:53278894-53278895
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	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11148262	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1436724	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1436728	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1925135	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2118093	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2760780	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs342774	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs342777	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3931491	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3989920	1.00[CEU][hapmap]
rs4539485	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4542538	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4884223	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4885804	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4885887	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4885910	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4885948	1.00[JPT][hapmap]
rs617660	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs630892	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs646498	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6561673	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6561674	1.00[CEU][hapmap]
rs6561676	1.00[JPT][hapmap]
rs6561677	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6561684	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6561685	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6561686	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs676306	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs693991	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7325840	1.00[JPT][hapmap]
rs7330193	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7330361	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7335270	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7987405	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7995188	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7996692	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7999466	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8000715	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9316581	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9316583	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526957	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526958	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526966	1.00[JPT][hapmap]
rs9526970	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526976	1.00[JPT][hapmap]
rs9526978	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526986	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526991	1.00[JPT][hapmap]
rs9526993	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526997	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536184	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536222	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536228	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536232	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536235	1.00[CEU][hapmap]
rs9536238	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536241	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536244	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536246	1.00[CEU][hapmap]
rs9536248	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536249	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536250	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536257	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536259	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9536260	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9568747	1.00[JPT][hapmap]
rs971513	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs973198	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9536245	CKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
3	chr13:53260400-53279200	Weak transcription	Aorta	Aorta
4	chr13:53260800-53280400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:53261000-53285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:53262600-53285600	Weak transcription	HMEC	breast
8	chr13:53263000-53281800	Weak transcription	Fetal Brain Male	brain
9	chr13:53263400-53285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:53270800-53282400	Weak transcription	Fetal Brain Female	brain
11	chr13:53272400-53297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:53273200-53279200	Weak transcription	Left Ventricle	heart
13	chr13:53274200-53285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:53274400-53279200	Weak transcription	Liver	Liver
15	chr13:53275400-53279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:53275400-53280200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:53276200-53284600	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:53276800-53279000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:53278000-53279600	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:53278000-53280200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:53278000-53284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:53278200-53280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:53278400-53280400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:53278400-53281200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:53278400-53283200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:53278400-53284400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:53278400-53285200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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