Variant report

Variant	rs73347172
Chromosome Location	chr14:45368114-45368115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45365431-45368515	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:45365544-45368347	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:45366108-45368253	IMR90	lung:	n/a	n/a
4	POLR2A	chr14:45367983-45368183	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:45365872-45368311	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
2	chr14:45367935..45369542-chr14:45743402..45745302,2	K562	blood:
3	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
4	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
5	chr1:117452390..117454247-chr14:45365454..45368358,2	MCF-7	breast:
6	chr14:45366139..45368285-chr17:56735222..56738242,3	MCF-7	breast:
7	chr14:45366802..45368333-chr14:45390243..45392661,2	MCF-7	breast:
8	chr14:45366933..45369023-chr20:32256770..32258931,2	MCF-7	breast:
9	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:
10	chr1:55679625..55681662-chr14:45367033..45368986,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-1	chr14:45368111-45368279	ENSG00000258949.1
2	lnc-KLHL28-1	chr14:45368022-45368279	NONHSAT036625
3	lnc-KLHL28-1	chr14:45368022-45368279	NONHSAT036627
4	lnc-KLHL28-1	chr14:45368111-45368279	NR_110050
5	lnc-KLHL28-1	chr14:45368022-45368279	NONHSAT036624

No data

Variant related genes	Relation type
C14orf28	TF binding region
ENSG00000258633	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000162402	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000125967	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000134247	Chromatin interaction
ENSG00000199739	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000187790	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10138021	1.00[EUR][1000 genomes]
rs10138040	1.00[EUR][1000 genomes]
rs11847093	1.00[EUR][1000 genomes]
rs11851752	1.00[EUR][1000 genomes]
rs12100894	1.00[EUR][1000 genomes]
rs28861520	1.00[EUR][1000 genomes]
rs73343267	1.00[EUR][1000 genomes]
rs73347191	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015940	1.00[EUR][1000 genomes]
rs8016539	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv3355498	chr14:45365427-45368175	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45365600-45368200	Active TSS	Aorta	Aorta
3	chr14:45365800-45368200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:45366000-45368200	Active TSS	Colon Smooth Muscle	Colon
5	chr14:45366000-45368200	Active TSS	HMEC	breast
6	chr14:45366000-45368400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:45366000-45368400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:45366000-45368400	Active TSS	Fetal Stomach	stomach
9	chr14:45366000-45368400	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr14:45366000-45368400	Active TSS	HSMMtube	muscle
11	chr14:45366000-45368600	Active TSS	Right Atrium	heart
12	chr14:45366000-45368600	Active TSS	NHLF	lung
13	chr14:45366200-45368200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:45366200-45368200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:45366200-45368400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:45366400-45368200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:45366400-45368200	Active TSS	Psoas Muscle	Psoas
18	chr14:45366400-45368200	Active TSS	Right Ventricle	heart
19	chr14:45366400-45368600	Active TSS	Ovary	ovary
20	chr14:45367000-45368200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr14:45367000-45368200	Active TSS	Fetal Brain Male	brain
22	chr14:45367200-45368200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:45367200-45368200	Flanking Active TSS	Osteobl	bone
24	chr14:45367200-45368400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:45367200-45368400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:45367400-45368200	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:45367400-45368200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr14:45367400-45368200	Flanking Active TSS	Fetal Heart	heart
30	chr14:45367400-45368200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:45367400-45368200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr14:45367400-45368400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:45367400-45368400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:45367400-45368600	Enhancers	Small Intestine	intestine
35	chr14:45367400-45370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:45367400-45371000	Weak transcription	Pancreas	Pancrea
37	chr14:45367400-45371400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:45367400-45374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:45367400-45375200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:45367400-45375200	Weak transcription	Esophagus	oesophagus
41	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:45367400-45381200	Weak transcription	Lung	lung
43	chr14:45367600-45368200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:45367600-45368200	Enhancers	Brain Anterior Caudate	brain
45	chr14:45367600-45368200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:45367600-45368200	Enhancers	Hela-S3	cervix
47	chr14:45367600-45368200	Flanking Active TSS	HepG2	liver
48	chr14:45367600-45368400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:45367600-45368600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:45367600-45372800	Weak transcription	Placenta	Placenta

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