Variant report

Variant	rs9526912
Chromosome Location	chr13:52969150-52969151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr13:52968883-52969271	HL-60	blood:	n/a	n/a
2	POLR2A	chr13:52969140-52969181	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52966775..52970068-chr13:52972581..52975068,3	K562	blood:
2	chr13:52968422..52971351-chr13:53024036..53026390,2	K562	blood:

Variant related genes	Relation type
RNY4P24	TF binding region
ENSG00000199605	Chromatin interaction
ENSG00000136100	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4297582	1.00[AFR][1000 genomes]
rs7335867	1.00[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	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52946000-52969600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr13:52946200-52979200	Weak transcription	A549	lung
3	chr13:52949800-52979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:52952600-52969200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:52952800-52969200	Weak transcription	Fetal Brain Female	brain
6	chr13:52952800-52969200	Weak transcription	Spleen	Spleen
7	chr13:52952800-52969200	Weak transcription	NHEK	skin
8	chr13:52952800-52969600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:52952800-52969600	Weak transcription	NHLF	lung
10	chr13:52952800-52971400	Weak transcription	Right Ventricle	heart
11	chr13:52953000-52970000	Weak transcription	Ovary	ovary
12	chr13:52955600-52969600	Weak transcription	Lung	lung
13	chr13:52956200-52978200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:52957800-52969600	Weak transcription	Fetal Stomach	stomach
15	chr13:52958000-52969200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:52958000-52969200	Weak transcription	HSMMtube	muscle
17	chr13:52958000-52969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:52958000-52970800	Weak transcription	Fetal Lung	lung
19	chr13:52961400-52969200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:52964800-52969400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:52965600-52969200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:52967000-52972200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:52967400-52969800	Enhancers	HUVEC	blood vessel
24	chr13:52967800-52970200	Enhancers	Brain Cingulate Gyrus	brain
25	chr13:52967800-52971600	Weak transcription	Pancreas	Pancrea
26	chr13:52967800-52978800	Weak transcription	NH-A	brain
27	chr13:52968000-52969600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:52968000-52970200	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr13:52968000-52970200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr13:52968200-52969600	Enhancers	Fetal Brain Male	brain
31	chr13:52968200-52979600	Weak transcription	Gastric	stomach
32	chr13:52968400-52969400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:52968400-52969400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:52968400-52969600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:52968400-52970200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:52968400-52978600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:52968400-52978600	Weak transcription	NHDF-Ad	bronchial
38	chr13:52968600-52970200	Enhancers	Brain Hippocampus Middle	brain
39	chr13:52968800-52972600	Strong transcription	HMEC	breast
40	chr13:52969000-52969400	Enhancers	Adipose Nuclei	Adipose
41	chr13:52969000-52969400	Enhancers	Brain Substantia Nigra	brain
42	chr13:52969000-52970000	Enhancers	Brain Angular Gyrus	brain
43	chr13:52969000-52970000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:52969000-52970200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:52969000-52970200	Enhancers	Brain Anterior Caudate	brain
46	chr13:52969000-52970200	Enhancers	Left Ventricle	heart
47	chr13:52969000-52970200	Enhancers	Right Atrium	heart
48	chr13:52969000-52972200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:52969000-52972400	Strong transcription	Osteobl	bone
50	chr13:52969000-52977600	Strong transcription	HSMM	muscle

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