Variant report

Variant	rs73802012
Chromosome Location	chr4:16234020-16234021
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	IRF1	chr4:16233234-16234275	K562	blood:	n/a	chr4:16234236-16234250 chr4:16234002-16234019 chr4:16234232-16234252 chr4:16233600-16233613 chr4:16234002-16234014 chr4:16233947-16233960 chr4:16234003-16234014 chr4:16234004-16234015 chr4:16233600-16233611 chr4:16234002-16234014 chr4:16233999-16234013 chr4:16234114-16234131

No.	Distal block	Cell Line	Cell type
1	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:
2	chr4:16051882..16054680-chr4:16233913..16235649,2	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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10007592	0.85[ASN][1000 genomes]
rs10516296	0.85[ASN][1000 genomes]
rs11931779	1.00[EUR][1000 genomes]
rs11940412	1.00[EUR][1000 genomes]
rs11946259	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1373109	0.81[ASN][1000 genomes]
rs2011754	0.81[ASN][1000 genomes]
rs28403341	0.85[ASN][1000 genomes]
rs28418449	1.00[EUR][1000 genomes]
rs28481627	0.85[ASN][1000 genomes]
rs28496446	0.81[ASN][1000 genomes]
rs28517428	0.85[ASN][1000 genomes]
rs28537328	0.85[ASN][1000 genomes]
rs28726676	0.81[ASN][1000 genomes]
rs28757814	0.81[ASN][1000 genomes]
rs55877538	1.00[EUR][1000 genomes]
rs56091285	1.00[EUR][1000 genomes]
rs56358846	1.00[EUR][1000 genomes]
rs56815412	1.00[EUR][1000 genomes]
rs57110573	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58219808	1.00[EUR][1000 genomes]
rs58468710	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59786002	1.00[EUR][1000 genomes]
rs60194927	1.00[EUR][1000 genomes]
rs60616838	1.00[EUR][1000 genomes]
rs6823623	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73798737	1.00[EUR][1000 genomes]
rs73798844	1.00[EUR][1000 genomes]
rs73798846	1.00[EUR][1000 genomes]
rs73798848	1.00[EUR][1000 genomes]
rs73798849	1.00[EUR][1000 genomes]
rs73798850	1.00[EUR][1000 genomes]
rs73798856	1.00[EUR][1000 genomes]
rs73798858	1.00[EUR][1000 genomes]
rs73798865	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73798866	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73798867	1.00[EUR][1000 genomes]
rs73798869	0.85[ASN][1000 genomes]
rs73798871	1.00[EUR][1000 genomes]
rs73798872	1.00[EUR][1000 genomes]
rs73798873	1.00[EUR][1000 genomes]
rs73798874	0.81[ASN][1000 genomes]
rs73798875	0.81[ASN][1000 genomes]
rs73798876	1.00[EUR][1000 genomes]
rs73798882	1.00[EUR][1000 genomes]
rs73798883	0.81[ASN][1000 genomes]
rs73802027	1.00[EUR][1000 genomes]
rs7664407	0.85[ASN][1000 genomes]
rs7666923	1.00[EUR][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	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
2	chr4:16229600-16234200	Weak transcription	Brain Germinal Matrix	brain
3	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
4	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:16229600-16254000	Weak transcription	Ovary	ovary
6	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
7	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
8	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
10	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
12	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:16231600-16235000	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:16232200-16244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:16232600-16238200	Enhancers	Fetal Brain Male	brain
18	chr4:16232800-16235400	Weak transcription	Right Ventricle	heart
19	chr4:16233000-16234200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:16233000-16234200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:16233000-16234200	Enhancers	Colon Smooth Muscle	Colon
22	chr4:16233000-16234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:16233000-16234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:16233000-16234400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:16233000-16234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:16233000-16234600	Enhancers	Adipose Nuclei	Adipose
27	chr4:16233200-16234200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:16233400-16234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr4:16233400-16234200	Active TSS	Brain Angular Gyrus	brain
30	chr4:16233400-16234200	Active TSS	Right Atrium	heart
31	chr4:16233400-16234200	Flanking Active TSS	HUVEC	blood vessel
32	chr4:16233400-16234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:16233400-16234400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:16233600-16234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:16233600-16234200	Active TSS	Brain Hippocampus Middle	brain
36	chr4:16233600-16234200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr4:16233600-16234200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:16233600-16234400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:16233800-16234200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr4:16233800-16234200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr4:16233800-16234200	Active TSS	Brain Cingulate Gyrus	brain
42	chr4:16233800-16234200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:16233800-16234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:16233800-16234400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:16233800-16237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:16234000-16234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:16234000-16234200	Enhancers	Fetal Heart	heart
48	chr4:16234000-16234200	Enhancers	A549	lung
49	chr4:16234000-16234200	Active TSS	NHDF-Ad	bronchial
50	chr4:16234000-16234400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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