Variant report

Variant	rs16903193
Chromosome Location	chr5:36605975-36605976
allele	A/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	STAT3	chr5:36605865-36607753	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
2	ZNF263	chr5:36605965-36607640	HEK293-T-REx	kidney:	n/a	chr5:36606662-36606671 chr5:36606629-36606650 chr5:36606612-36606621

Variant related genes	Relation type
SLC1A3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12054904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3776564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3822468	1.00[AMR][1000 genomes]
rs9790917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:36600200-36606000	Enhancers	Brain Substantia Nigra	brain
4	chr5:36601200-36606000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:36601800-36606000	Weak transcription	NHLF	lung
6	chr5:36602000-36606200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:36602200-36606200	Weak transcription	Pancreas	Pancrea
8	chr5:36603400-36606000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:36603400-36606000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:36603400-36606200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:36603400-36606200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:36603400-36606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:36603600-36606200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:36603600-36606200	Weak transcription	Left Ventricle	heart
15	chr5:36604200-36606000	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:36604400-36606000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:36604600-36606000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:36604600-36606000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:36604600-36606200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:36605000-36606000	Enhancers	HSMM	muscle
22	chr5:36605000-36606000	Enhancers	Osteobl	bone
23	chr5:36605000-36606200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:36605200-36606000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:36605200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:36605200-36606000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:36605400-36606000	Enhancers	Hela-S3	cervix
28	chr5:36605400-36606000	Enhancers	NHEK	skin
29	chr5:36605400-36606400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:36605400-36606400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:36605400-36607000	Bivalent/Poised TSS	Fetal Brain Male	brain
32	chr5:36605400-36608200	Active TSS	NHDF-Ad	bronchial
33	chr5:36605400-36608400	Active TSS	Brain Anterior Caudate	brain
34	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:36605600-36606000	Weak transcription	Fetal Heart	heart
36	chr5:36605600-36606200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr5:36605600-36608600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:36605600-36609800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:36605600-36609800	Active TSS	Brain Hippocampus Middle	brain
40	chr5:36605800-36606000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:36605800-36606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:36605800-36606000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:36605800-36606000	Active TSS	Fetal Brain Female	brain
44	chr5:36605800-36606000	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr5:36605800-36606000	Enhancers	Fetal Stomach	stomach
46	chr5:36605800-36606000	Enhancers	NH-A	brain
47	chr5:36605800-36606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:36605800-36606200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr5:36605800-36606200	Flanking Active TSS	HMEC	breast
50	chr5:36605800-36606400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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