Variant report

Variant	rs34837883
Chromosome Location	chr4:16231719-16231720
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	POLR2A	chr4:16228635-16234024	K562	blood:	n/a	n/a
2	POLR2A	chr4:16230349-16232360	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:16230982..16233844-chr4:16235259..16238422,3	MCF-7	breast:
2	chr4:16230488..16232179-chr4:16234227..16236390,2	MCF-7	breast:
3	chr4:16227416..16229454-chr4:16230827..16235422,5	MCF-7	breast:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13120908	0.94[EUR][1000 genomes]
rs13132678	0.95[EUR][1000 genomes]
rs13136055	0.89[EUR][1000 genomes]
rs13136172	0.95[EUR][1000 genomes]
rs34129131	0.90[EUR][1000 genomes]
rs34496855	0.94[EUR][1000 genomes]
rs34592687	0.92[EUR][1000 genomes]
rs34663238	0.93[EUR][1000 genomes]
rs35141398	0.90[AFR][1000 genomes]
rs35475888	0.94[EUR][1000 genomes]
rs35517826	0.89[EUR][1000 genomes]
rs35804424	0.93[EUR][1000 genomes]
rs35899968	0.93[EUR][1000 genomes]
rs56353092	0.95[EUR][1000 genomes]
rs6810390	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs68114846	0.88[AFR][1000 genomes]
rs6852432	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv593778	chr4:16227851-16233787	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv967728	chr4:16229943-16232845	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34837883	TAPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
2	chr4:16229600-16233000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:16229600-16233200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:16229600-16233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:16229600-16233400	Weak transcription	Right Atrium	heart
6	chr4:16229600-16234200	Weak transcription	Brain Germinal Matrix	brain
7	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
8	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:16229600-16254000	Weak transcription	Ovary	ovary
10	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
11	chr4:16229800-16233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:16229800-16233000	Weak transcription	HUVEC	blood vessel
13	chr4:16229800-16233000	Weak transcription	NHDF-Ad	bronchial
14	chr4:16229800-16233200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:16229800-16233200	Weak transcription	Osteobl	bone
16	chr4:16229800-16233400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:16229800-16233800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:16229800-16233800	Weak transcription	Fetal Kidney	kidney
19	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
20	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:16230000-16232000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:16230000-16232000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:16230000-16232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:16230000-16233000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:16230000-16233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:16230000-16233200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:16230000-16233200	Weak transcription	Stomach Mucosa	stomach
28	chr4:16230000-16233400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:16230000-16233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
31	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
33	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:16230200-16232600	Weak transcription	Fetal Brain Male	brain
36	chr4:16230200-16233000	Weak transcription	Adipose Nuclei	Adipose
37	chr4:16230200-16233200	Enhancers	Brain Hippocampus Middle	brain
38	chr4:16230200-16233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:16230200-16233800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:16230600-16232800	Weak transcription	Brain Substantia Nigra	brain
41	chr4:16230600-16233200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:16230600-16233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:16230600-16233600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:16230600-16233800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:16230800-16232000	Weak transcription	K562	blood
47	chr4:16230800-16233000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:16230800-16233000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:16230800-16233000	Weak transcription	Brain Angular Gyrus	brain
50	chr4:16230800-16233400	Enhancers	Primary hematopoietic stem cells	blood

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