Variant report

Variant	rs28483238
Chromosome Location	chr14:31173704-31173705
allele	C/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	MAZ	chr14:31173647-31173835	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31147634..31149343-chr14:31172291..31175007,2	MCF-7	breast:

Variant related genes	Relation type
SCFD1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17348231	0.84[EUR][1000 genomes]
rs17348259	1.00[EUR][1000 genomes]
rs17362475	1.00[EUR][1000 genomes]
rs17363198	1.00[EUR][1000 genomes]
rs17433265	1.00[EUR][1000 genomes]
rs1884582	1.00[EUR][1000 genomes]
rs45531233	1.00[EUR][1000 genomes]
rs58653311	1.00[EUR][1000 genomes]
rs7157286	1.00[EUR][1000 genomes]
rs73253017	1.00[EUR][1000 genomes]
rs73254546	1.00[EUR][1000 genomes]
rs73254548	1.00[EUR][1000 genomes]
rs73254556	1.00[EUR][1000 genomes]
rs73254558	1.00[EUR][1000 genomes]
rs73254560	0.92[EUR][1000 genomes]
rs73254562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254580	1.00[EUR][1000 genomes]
rs73254586	1.00[EUR][1000 genomes]
rs73254588	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
6	chr14:31153600-31174400	Weak transcription	NHDF-Ad	bronchial
7	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
9	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
11	chr14:31160200-31176000	Strong transcription	HSMM	muscle
12	chr14:31160200-31178800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
18	chr14:31161000-31178600	Weak transcription	Stomach Mucosa	stomach
19	chr14:31161000-31180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:31162000-31181000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:31162200-31192000	Weak transcription	A549	lung
27	chr14:31162200-31199200	Strong transcription	HepG2	liver
28	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31162600-31194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:31162800-31183200	Weak transcription	Fetal Heart	heart
31	chr14:31163400-31179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:31163600-31179400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:31163600-31180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31164400-31195800	Weak transcription	Brain Substantia Nigra	brain
35	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:31166000-31204200	Weak transcription	Colonic Mucosa	Colon
37	chr14:31166000-31205600	Weak transcription	Thymus	Thymus
38	chr14:31166200-31175800	Weak transcription	Hela-S3	cervix
39	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
40	chr14:31167000-31175000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:31167000-31183600	Weak transcription	HUVEC	blood vessel
42	chr14:31167200-31175800	Weak transcription	NHEK	skin
43	chr14:31167200-31176200	Weak transcription	Fetal Kidney	kidney
44	chr14:31167800-31196000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:31168000-31175600	Weak transcription	Ovary	ovary
46	chr14:31168000-31175800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:31168000-31195800	Weak transcription	Lung	lung
48	chr14:31168200-31174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:31168200-31175400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:31168200-31175600	Weak transcription	Fetal Muscle Trunk	muscle

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