Variant report

Variant	rs9531995
Chromosome Location	chr13:37492594-37492595
allele	C/T
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	FOXA1	chr13:37492090-37492600	HepG2	liver:	n/a	n/a
2	POLR2A	chr13:37492288-37493937	SK-N-MC	brain:	n/a	n/a
3	MXI1	chr13:37491413-37495932	SK-N-SH	brain:	n/a	n/a
4	KAP1	chr13:37492310-37493064	U2OS	brain:	n/a	n/a
5	EP300	chr13:37492470-37492697	SK-N-SH_RA	brain:	n/a	n/a
6	PBX3	chr13:37492273-37492860	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr13:37492503-37492671	SH-SY5Y	brain:	n/a	chr13:37492529-37492538
8	POLR2A	chr13:37492310-37492987	SK-N-MC	brain:	n/a	n/a
9	KAP1	chr13:37492127-37493418	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:37483882..37487879-chr13:37488428..37492831,4	K562	blood:
2	chr13:37490771..37492645-chr13:37492892..37494603,2	MCF-7	breast:
3	chr13:37486740..37488399-chr13:37490677..37493431,2	MCF-7	breast:

Variant related genes	Relation type
LAMTOR3P1	TF binding region
ENSG00000120693	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12872025	1.00[ASN][1000 genomes]
rs17216781	1.00[ASN][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37474400-37492600	Weak transcription	Ovary	ovary
2	chr13:37487600-37492600	Weak transcription	HSMMtube	muscle
3	chr13:37488400-37493000	Weak transcription	Gastric	stomach
4	chr13:37490200-37492600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:37490200-37492600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:37490400-37492800	Weak transcription	Right Ventricle	heart
7	chr13:37490600-37492600	Enhancers	Brain Substantia Nigra	brain
8	chr13:37490600-37492600	Enhancers	Colon Smooth Muscle	Colon
9	chr13:37490800-37492600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:37491000-37492600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:37491200-37493400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:37491400-37492600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:37491400-37493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:37491600-37492600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:37491600-37492600	Enhancers	Brain Germinal Matrix	brain
16	chr13:37491600-37492600	Enhancers	HUVEC	blood vessel
17	chr13:37491600-37492800	Enhancers	HSMM	muscle
18	chr13:37491800-37492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:37491800-37492600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:37491800-37492600	Enhancers	Fetal Heart	heart
21	chr13:37491800-37492600	Enhancers	NHDF-Ad	bronchial
22	chr13:37491800-37492800	Enhancers	Fetal Stomach	stomach
23	chr13:37491800-37493400	Active TSS	Stomach Smooth Muscle	stomach
24	chr13:37492000-37492600	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:37492000-37492600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:37492000-37492600	Active TSS	Fetal Kidney	kidney
27	chr13:37492000-37492600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:37492000-37492800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:37492200-37492600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:37492400-37492600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:37492400-37492600	Active TSS	Brain Anterior Caudate	brain
32	chr13:37492400-37492600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr13:37492400-37492800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr13:37492400-37492800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr13:37492400-37492800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:37492400-37492800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:37492400-37492800	Flanking Active TSS	Fetal Lung	lung
38	chr13:37492400-37492800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr13:37492400-37492800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr13:37492400-37493000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:37492400-37493000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:37492400-37493000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:37492400-37493000	Flanking Active TSS	Fetal Brain Male	brain
44	chr13:37492400-37493000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr13:37492400-37493000	Bivalent Enhancer	GM12878-XiMat	blood
46	chr13:37492400-37493000	Flanking Active TSS	HepG2	liver
47	chr13:37492400-37493200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:37492400-37493200	Flanking Active TSS	Fetal Brain Female	brain
49	chr13:37492400-37493400	Flanking Active TSS	Osteobl	bone
50	chr13:37492400-37493600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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